Back to
Associate Professor Kaustuv Bhattacharya

Associate Professor Kaustuv Bhattacharya

Conjoint Associate Professor

MBBS

MRCP

MRCPCH

MD (res)

FRACP

Medicine & Health
School of Clinical Medicine

I am a specialist in managing rare genetic metabolic conditions, having designed the original investigator led studies leading to the marketing of a novel product for the treatment of glycogen storage diseases, as part of my post-graduate MD (res) qualification in the UK.

I continue clinical research projects in several inborn errors of metabolism, allied to the New South Wales newborn screening programme and have developed novel therapeutic strategies for rare genetic metabolic conditions. I continue research collaborations across Australia and the world to better identify and manage rare genetic conditions.
Phone
+61298453654
E-mail
kaustuv.bhattacharya@health.nsw.gov.au
  • Book Chapters | 2022
    Bhattacharya K; Moore F; Christodoulou J, 2022, 'Genetic Metabolic Disease', in Keeling's Fetal and Neonatal Pathology, Springer International Publishing, pp. 267 - 289, http://dx.doi.org/10.1007/978-3-030-84168-3_11
    Book Chapters | 2022
    Bhattacharya K; Moore F; Christodoulou J, 2022, 'Genetic metabolic disease', in Keeling's Fetal and Neonatal Pathology, pp. 267 - 289, http://dx.doi.org/10.1007/978-3-030-84168-3_l1
    Book Chapters | 2018
    Selvanathan A; Ellaway C; Wilson C; Owens P; Shaw PJ; Bhattacharya K, 2018, 'Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type ii: A case series', in JIMD Reports, pp. 81 - 89, http://dx.doi.org/10.1007/8904_2018_104
    Book Chapters | 2015
    Bhattacharya K; Moore F; Christodoulou J, 2015, 'Genetic metabolic disease', in Keeling's Fetal and Neonatal Pathology, pp. 275 - 298, http://dx.doi.org/10.1007/978-3-319-19207-9_11
    Book Chapters | 2014
    Ho G; Alexander I; Bhattacharya K; Dennison B; Ellaway C; Thompson S; Wilcken B; Christodoulou J, 2014, 'The molecular bases of phenylketonuria (PKU) in new south wales, australia: Mutation profile and correlation with tetrahydrobiopterin (BH4) Responsiveness', in JIMD Reports, pp. 55 - 65, http://dx.doi.org/10.1007/8904_2013_284
  • Journal articles | 2025
    D'Silva A; Barnes J; Djafar J; Bhattacharya K; Yan J; Mohammad S; Bandodkar S; Johnson A; Tchan M; Miteff C; Elvidge KL; Dale RC; Farrar M, 2025, 'Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials', Neurotherapeutics, 22, http://dx.doi.org/10.1016/j.neurot.2025.e00546
    Journal articles | 2025
    Djafar J; Nevin S; Smith N; Ardern-Holmes S; Bhattacharya K; Dale R; Ellaway C; Grattan S; Johnson A; Kandula T; Kariyawasam DS; Lewis K; Meagher CE; Mohammad S; Farrar MA, 2025, ''Fighting every day': Exploring caregiver quality of life and perspectives on healthcare services for children with dementia - A cross-sectional, mixed-methods study', Archives of Disease in Childhood, pp. archdischild-2024-328011, http://dx.doi.org/10.1136/archdischild-2024-328011
    Journal articles | 2025
    Rius R; Compton AG; Baker NL; Balasubramaniam S; Best S; Bhattacharya K; Boggs K; Boughtwood T; Braithwaite J; Bratkovic D; Bray A; Brion MJ; Burke J; Casauria S; Chong B; Coman D; Cowie S; Cowley M; de Silva MG; Delatycki MB; Edwards S; Ellaway C; Fahey MC; Finlay K; Fletcher J; Frajman LE; Frazier AE; Gayevskiy V; Ghaoui R; Goel H; Goranitis I; Haas M; Hock DH; Howting D; Jackson MR; Kava MP; Kemp M; King-Smith S; Lake NJ; Lamont PJ; Lee J; Long JC; MacShane M; Madelli EO; Martin EM; Marum JE; Mattiske T; McGill J; Metke A; Murray S; Panetta J; Phillips LK; Quinn MCJ; Ryan MT; Schenscher S; Simons C; Smith N; Stroud DA; Tchan MC; Tom M; Wallis M; Ware TL; Welch AME; Wools C; Wu Y; Christodoulou J; Thorburn DR, 2025, 'The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses', Genetics in Medicine, 27, http://dx.doi.org/10.1016/j.gim.2024.101271
    Journal articles | 2024
    Heather N; Greaves RF; Bhattacharya K; Greed L; Pitt J; Siu CWK; de Hora M; Price R; Ranieri E; Wotton T; Webster D, 2024, 'Counting Conditions on Newborn Bloodspot Screening Panels in Australia and New Zealand', International Journal of Neonatal Screening, 10, http://dx.doi.org/10.3390/ijns10030047
    Journal articles | 2024
    Nevin SM; Le Marne FA; Beavis E; Macintosh R; Palmer EE; Sachdev R; Nunn K; Bye A; van Beek A; Wittekind C; Shalhoub C; Lau CYY; Elliot C; Rogers D; Wijetilaka D; Argent E; Cotterell E; Jacobson EE; McCarthy H; Sampaio H; Dalby-Payne J; Ging J; Doyle K; Bhattacharya K; Stark K; Lorentzos M; Slade R; Evans R; Pillai S; Mohammad S; Piper S; Sarkozy V, 2024, 'Psychosocial experiences of clinicians providing care for children with severe neurological impairment', Developmental Medicine and Child Neurology, 66, pp. 1622 - 1631, http://dx.doi.org/10.1111/dmcn.15987
    Journal articles | 2023
    Adams L; Selvanathan A; Batten KJ; van Doorn N; Thompson S; Mitchell A; Sampaio H; Dalkeith T; Russell J; Ellaway CJ; Farrar M; Broderick C; Bhattacharya K, 2023, 'Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales', JIMD Reports, 64, pp. 327 - 336, http://dx.doi.org/10.1002/jmd2.12389
    Journal articles | 2023
    Batten K; Bhattacharya K; Simar D; Broderick C, 2023, 'Exercise testing and prescription in patients with inborn errors of muscle energy metabolism', Journal of Inherited Metabolic Disease, 46, pp. 763 - 777, http://dx.doi.org/10.1002/jimd.12644
    Journal articles | 2023
    Cunningham SC; Van Dijk EB; Zhu E; Sugden M; Mandwie M; Siew S; Devanapalli B; Tolun AA; Klein A; Wilson L; Aryamanesh N; Gissen P; Baruteau J; Bhattacharya K; Alexander IE, 2023, 'Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies', Human Gene Therapy, 34, pp. 917 - 926, http://dx.doi.org/10.1089/hum.2023.011
    Journal articles | 2023
    Djafar JV; Smith NJ; Johnson AM; Bhattacharya K; Ardern-Holmes SL; Ellaway C; Dale RC; D'Silva AM; Kariyawasam DS; Grattan S; Kandula T; Lewis K; Mohammed SS; Farrar MA, 2023, 'Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers', Pediatric Neurology, 149, pp. 75 - 83, http://dx.doi.org/10.1016/j.pediatrneurol.2023.09.006
    Journal articles | 2023
    Ji C; Farrar MA; Norris S; Bhattacharya K; Bennetts B; Newson AJ; Healy L; Millis N; Kariyawasam DS, 2023, 'The Australian landscape of newborn screening in the genomics era', Rare Disease and Orphan Drugs Journal, 2, http://dx.doi.org/10.20517/rdodj.2023.30
    Journal articles | 2023
    Nevin SM; McGill BC; Kelada L; Hilton G; Maack M; Elvidge KL; Farrar MA; Baynam G; Katz NT; Donovan L; Grattan S; Signorelli C; Bhattacharya K; Nunn K; Wakefield CE, 2023, 'The psychosocial impact of childhood dementia on children and their parents: a systematic review', Orphanet Journal of Rare Diseases, 18, http://dx.doi.org/10.1186/s13023-023-02859-3
    Journal articles | 2023
    Selvanathan A; Forwood C; Russell J; Batten K; Thompson S; Palmer EE; Macintosh R; Nightingale S; Mitchell R; Alvaro F; Dudding‐Byth T; Lunke S; Christodoulou J; Stark Z; White F; Jones SA; Bhattacharya K, 2023, 'Rapid whole‐genome sequencing leading to specific treatment for two infants with haemophagocytic lymphohistiocytosis due to Wolman disease', Pediatric Blood and Cancer, http://dx.doi.org/10.1002/pbc.30394
    Journal articles | 2023
    Selvanathan A; Hertzog A; Ellaway C; Lewis K; Lichkus K; Adams L; Bhattacharya K; Tolun A, 2023, 'STANDARD BIOMARKERS DO NOT CORRELATE WITH DISEASE PROGRESSION IN CHILDHOOD-ONSET COBALAMIN C DISEASE', MOLECULAR GENETICS AND METABOLISM, 138, pp. 87 - 87, http://dx.doi.org/10.1016/j.ymgme.2023.107480
    Journal articles | 2023
    Thompson S; Hertzog A; Selvanathan A; Batten K; Lewis K; Nisbet J; Mitchell A; Dalkeith T; Billmore K; Moore F; Tolun AA; Devanapalli B; Bratkovic D; Hilditch C; Rahman Y; Tchan M; Bhattacharya K, 2023, 'Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases', Nutrients, 15, pp. 531, http://dx.doi.org/10.3390/nu15030531
    Journal articles | 2022
    Bhattacharya K, 2022, 'International Congress of Inborn Errors of Metabolism (ICIEM) Sydney 2021', Journal of Inherited Metabolic Disease, 45, pp. 863, http://dx.doi.org/10.1002/jimd.12539
    Journal articles | 2022
    Hertzog A; Selvanathan A; Devanapalli B; Ho G; Bhattacharya K; Tolun AA, 2022, 'A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism', Translational Pediatrics, 11, pp. 1704 - 1716, http://dx.doi.org/10.21037/tp-22-105
    Journal articles | 2022
    Hertzog A; Selvanathan A; Farnsworth E; Tchan M; Adams L; Lewis K; Tolun AA; Bennetts B; Ho G; Bhattacharya K, 2022, 'Intronic variants in inborn errors of metabolism: Beyond the exome', Frontiers in Genetics, 13, http://dx.doi.org/10.3389/fgene.2022.1031495
    Journal articles | 2022
    Hertzog A; Selvanathan A; Halligan R; Fazio T; de Jong G; Bratkovic D; Bhattacharya K; Tolun AA; Bennetts B; Fisk K, 2022, 'A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency', JIMD Reports, 63, pp. 271 - 275, http://dx.doi.org/10.1002/jmd2.12289
    Journal articles | 2022
    Hertzog A; Selvanathan A; Pandithan D; Kim WT; Kava MP; Boneh A; Coman D; Tolun AA; Bhattacharya K, 2022, '3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis', JIMD Reports, 63, pp. 568 - 574, http://dx.doi.org/10.1002/jmd2.12332
    Journal articles | 2022
    Mitchell JJ; Burton BK; Bober MB; Campeau PM; Cohen S; Dosenovic S; Ellaway C; Bhattacharya K; Guffon N; Hinds D; Lail A; Lin SP; Magner M; Raiman J; Schwartz-Sagi L; Stepien KM, 2022, 'Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa', Molecular Genetics and Metabolism, 137, pp. 164 - 172, http://dx.doi.org/10.1016/j.ymgme.2022.08.007
    Journal articles | 2022
    Riley LG; Nafisinia M; Menezes MJ; Nambiar R; Williams A; Barnes EH; Selvanathan A; Lichkus K; Bratkovic D; Yaplito-Lee J; Bhattacharya K; Ellaway C; Kava M; Balasubramaniam S; Christodoulou J, 2022, 'FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children', Molecular Genetics and Metabolism, 135, pp. 63 - 71, http://dx.doi.org/10.1016/j.ymgme.2021.12.001
    Journal articles | 2022
    Rius R; Bennett NK; Bhattacharya K; Riley LG; Yüksel Z; Formosa LE; Compton AG; Dale RC; Cowley MJ; Gayevskiy V; Al Tala SM; Almehery AA; Ryan MT; Thorburn DR; Nakamura K; Christodoulou J, 2022, 'Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy', Human Mutation, 43, pp. 1970 - 1978, http://dx.doi.org/10.1002/humu.24453
    Journal articles | 2021
    Bhattacharya K; Millis N; Jaffe A; Zurynski Y, 2021, 'Rare diseases research and policy in Australia: On the journey to equitable care', Journal of Paediatrics and Child Health, 57, pp. 778 - 781, http://dx.doi.org/10.1111/jpc.15507
    Journal articles | 2021
    Elserafy N; Thompson S; Dalkeith T; Stormon M; Thomas G; Shun A; Sawyer J; Balasubramanian S; Bhattacharya K; Badawi N; Ellaway C, 2021, 'Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia', JIMD Reports, 60, pp. 88 - 95, http://dx.doi.org/10.1002/jmd2.12219
    Journal articles | 2021
    Frazier AE; Compton AG; Kishita Y; Hock DH; Welch AME; Amarasekera SSC; Rius R; Formosa LE; Imai-Okazaki A; Francis D; Wang M; Lake NJ; Tregoning S; Jabbari JS; Lucattini A; Nitta KR; Ohtake A; Murayama K; Amor DJ; McGillivray G; Wong FY; van der Knaap MS; Vermeulen RJ; Wiltshire EJ; Fletcher JM; Lewis B; Baynam G; Ellaway C; Balasubramaniam S; Bhattacharya K; Freckmann ML; Arbuckle S; Rodriguez M; Taft RJ; Sadedin S; Cowley MJ; Minoche AE; Calvo SE; Mootha VK; Ryan MT; Okazaki Y; Stroud DA; Simons C; Christodoulou J; Thorburn DR, 2021, 'Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus', Med, 2, pp. 49 - 73.e10, http://dx.doi.org/10.1016/j.medj.2020.06.004
    Journal articles | 2021
    Graves LE; Stewart K; Ambler GR; Bhattacharya K; Srinivasan S, 2021, 'Investigating paediatric hypoglycaemia: Dynamic studies at a tertiary paediatric hospital', Journal of Paediatrics and Child Health, 57, pp. 888 - 893, http://dx.doi.org/10.1111/jpc.15349
    Journal articles | 2021
    Hertzog A; Selvanathan A; Tolun AA; Parayil Sankaran B; Bhattacharya K, 2021, 'Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism', Journal of Paediatrics and Child Health, 57, pp. 1703 - 1706, http://dx.doi.org/10.1111/jpc.15365
    Journal articles | 2021
    Ryder B; Inbar-Feigenberg M; Glamuzina E; Halligan R; Vara R; Elliot A; Coman D; Minto T; Lewis K; Schiff M; Vijay S; Akroyd R; Thompson S; MacDonald A; Woodward AJM; Gribben JEL; Grunewald S; Belaramani K; Hall M; van der Haak N; Devanapalli B; Tolun AA; Wilson C; Bhattacharya K, 2021, 'New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches', Journal of Inherited Metabolic Disease, 44, pp. 903 - 915, http://dx.doi.org/10.1002/jimd.12371
    Journal articles | 2021
    Sankaran BP; Gupta S; Tchan M; Devanapalli B; Rahman Y; Procopis P; Bhattacharya K, 2021, 'GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome', Orphanet Journal of Rare Diseases, 16, http://dx.doi.org/10.1186/s13023-021-02073-z
    Journal articles | 2021
    Selvanathan A; Kinsella J; Moore F; Wynn R; Jones S; Shaw PJ; Wilcken B; Bhattacharya K, 2021, 'Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series', JIMD Reports, 61, pp. 3 - 11, http://dx.doi.org/10.1002/jmd2.12222
    Journal articles | 2020
    Baynam GS; Wicking C; Bhattacharya K; Millis N, 2020, 'Protecting the rare during a rare pandemic', Medical Journal of Australia, 213, pp. 94 - 94.e1, http://dx.doi.org/10.5694/mja2.50671
    Journal articles | 2020
    Bhattacharya K; Balasubramaniam S; Murray K; Peters H; Ketteridge D; Inwood A; Lee J; Ellaway C; Owens P; Wong M; Ly C; McGill J, 2020, 'Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio A Syndrome: A Phase 3b Study', Journal of Inborn Errors of Metabolism and Screening, 8, http://dx.doi.org/10.1590/2326-4594-JIEMS-2020-0001
    Journal articles | 2020
    Bhattacharya K; Matar W; Tolun AA; Devanapalli B; Thompson S; Dalkeith T; Lichkus K; Tchan M, 2020, 'The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders', Orphanet Journal of Rare Diseases, 15, http://dx.doi.org/10.1186/s13023-020-1316-x
    Journal articles | 2020
    Mohammad SS; Angiti RR; Biggin A; Morales-Briceño H; Goetti R; Perez-Dueñas B; Gregory A; Hogarth P; Ng J; Papandreou A; Bhattacharya K; Rahman S; Prelog K; Webster RI; Wassmer E; Hayflick S; Livingston J; Kurian M; Chong WK; Dale RC; Menezes MP; Gupta S; Troedson C; Pillai S; Tantsis E; Gill D; Ellaway C; Holmes SA; Antony J; Mankad K; Carr L; Prabhakar P; Munot P; Bhate S; Gissen P; Clayton P; Tuschl K; Simmons L; Crow Y; Dalkeith T, 2020, 'Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders', Brain Communications, 2, http://dx.doi.org/10.1093/braincomms/fcaa178
    Journal articles | 2020
    Riley LG; Cowley MJ; Gayevskiy V; Minoche AE; Puttick C; Thorburn DR; Rius R; Compton AG; Menezes MJ; Bhattacharya K; Coman D; Ellaway C; Alexander IE; Adams L; Kava M; Robinson J; Sue CM; Balasubramaniam S; Christodoulou J, 2020, 'The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease', Genetics in Medicine, 22, pp. 1254 - 1261, http://dx.doi.org/10.1038/s41436-020-0793-6
    Journal articles | 2020
    van Rijt WJ; Jager EA; Allersma DP; Aktuğlu Zeybek AÇ; Bhattacharya K; Debray FG; Ellaway CJ; Gautschi M; Geraghty MT; Gil-Ortega D; Larson AA; Moore F; Morava E; Morris AA; Oishi K; Schiff M; Scholl-Bürgi S; Tchan MC; Vockley J; Witters P; Wortmann SB; van Spronsen F; Van Hove JLK; Derks TGJ, 2020, 'Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency', Genetics in Medicine, 22, pp. 908 - 916, http://dx.doi.org/10.1038/s41436-019-0739-z
    Journal articles | 2019
    Blommaert E; Péanne R; Cherepanova NA; Rymen D; Staels F; Jaeken J; Race V; Keldermans L; Souche E; Corveleyn A; Sparkes R; Bhattacharya K; Devalck C; Schrijvers R; Foulquier F; Gilmore R; Matthijs G, 2019, 'Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype', Proceedings of the National Academy of Sciences of the United States of America, 116, pp. 9865 - 9870, http://dx.doi.org/10.1073/pnas.1817815116
    Journal articles | 2019
    Muntau AC; Adams DJ; Bélanger-Quintana A; Bushueva TV; Cerone R; Chien YH; Chiesa A; Coşkun T; de las Heras J; Feillet F; Katz R; Lagler F; Piazzon F; Rohr F; van Spronsen FJ; Vargas P; Wilcox G; Bhattacharya K, 2019, 'International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria', Molecular Genetics and Metabolism, 127, pp. 1 - 11, http://dx.doi.org/10.1016/j.ymgme.2019.04.004
    Journal articles | 2018
    Owens P; Wong M; Bhattacharya K; Ellaway C, 2018, 'Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response', Journal of Paediatrics and Child Health, 54, pp. 1255 - 1261, http://dx.doi.org/10.1111/jpc.14070
    Journal articles | 2017
    Korula S; Owens P; Charlton A; Bhattacharya K, 2017, 'Rare case of hepatic gaucheroma in a child on enzyme replacement therapy', , 32, pp. 101 - 104, http://dx.doi.org/10.1007/8904_2016_562
    Journal articles | 2017
    Nafisinia M; Riley LG; Gold WA; Bhattacharya K; Broderick CR; Thorburn DR; Simons C; Christodoulou J, 2017, 'Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction', PLoS ONE, 12, pp. e0178125, http://dx.doi.org/10.1371/journal.pone.0178125
    Journal articles | 2017
    Schrover R; Evans K; Giugliani R; Noble I; Bhattacharya K, 2017, 'Minimal clinically important difference for the 6-min walk test: Literature review and application to Morquio A syndrome', Orphanet Journal of Rare Diseases, 12, http://dx.doi.org/10.1186/s13023-017-0633-1
    Journal articles | 2016
    Bhattacharya K; Pontin J; Thompson S, 2016, 'Dietary management of the ketogenic glycogen storage diseases', Journal of Inborn Errors of Metabolism and Screening, 4, http://dx.doi.org/10.1177/2326409816661359
    Journal articles | 2016
    Menezes MP; Rahman S; Bhattacharya K; Clark D; Christodoulou J; Ellaway C; Farrar M; Pitt M; Sampaio H; Ware TL; Wedatilake Y; Thorburn DR; Ryan MM; Ouvrier R, 2016, 'Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease', Mitochondrion, 30, pp. 162 - 167, http://dx.doi.org/10.1016/j.mito.2016.07.014
    Journal articles | 2016
    Montaño AM; Lock-Hock N; Steiner RD; Graham BH; Szlago M; Greenstein R; Pineda M; Gonzalez-Meneses A; çoker M; Bartholomew D; Sands MS; Wang R; Giugliani R; Macaya A; Pastores G; Ketko AK; Ezgü F; Tanaka A; Arash L; Beck M; Falk RE; Bhattacharya K; Franco J; White KK; Mitchell GA; Cimbalistiene L; Holtz M; Sly WS, 2016, 'Clinical course of sly syndrome (mucopolysaccharidosis type VII)', Journal of Medical Genetics, 53, pp. 403 - 418, http://dx.doi.org/10.1136/jmedgenet-2015-103322
    Journal articles | 2015
    Berrier KL; Kazi ZB; Prater SN; Bali DS; Goldstein J; Stefanescu MC; Rehder CW; Botha EG; Ellaway C; Bhattacharya K; Tylki-Szymanska A; Karabul N; Rosenberg AS; Kishnani PS, 2015, 'Erratum: CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy(Genetics in Medicine(2015)17:7)', Genetics in Medicine, 17, pp. 596, http://dx.doi.org/10.1038/gim.2015.57
    Journal articles | 2015
    Berrier KL; Kazi ZB; Prater SN; Bali DS; Goldstein J; Stefanescu MC; Rehder CW; Botha EG; Ellaway C; Bhattacharya K; Tylki-Szymanska A; Karabul N; Rosenburg AS; Kishnani PS, 2015, 'CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy', Genetics in Medicine, 17, pp. 912 - 918, http://dx.doi.org/10.1038/gim.2015.6
    Journal articles | 2015
    Bhattacharya K; Mundy H; Lilburn MF; Champion MP; Morley DW; Maillot F, 2015, 'A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: A randomized double-blind cross-over study', Orphanet Journal of Rare Diseases, 10, http://dx.doi.org/10.1186/s13023-015-0229-6
    Journal articles | 2015
    Bhattacharya K, 2015, 'Investigation and management of the hepatic glycogen storage diseases', TRANSLATIONAL PEDIATRICS, 4, pp. 240 - 248, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.04.07
    Journal articles | 2015
    Bhattacharya K, 2015, 'Where will genetic research take us?', TRANSLATIONAL PEDIATRICS, 4, pp. 318 - 319, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.10.09
    Journal articles | 2015
    Choy YS; Bhattacharya K; Balasubramaniam S; Fietz M; Fu A; Inwood A; Jin DK; Kim OH; Kosuga M; Kwun YH; Lin HY; Lin SP; Mendelsohn NJ; Okuyama T; Samion H; Tan A; Tanaka A; Thamkunanon V; Thong MK; Toh TH; Yang AD; McGill J, 2015, 'Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)', Molecular Genetics and Metabolism, 115, pp. 41 - 47, http://dx.doi.org/10.1016/j.ymgme.2015.03.005
    Journal articles | 2014
    Baker PR; Friederich MW; Swanson MA; Shaikh T; Bhattacharya K; Scharer GH; Aicher J; Creadon-Swindell G; Geiger E; Maclean KN; Lee WT; Deshpande C; Freckmann ML; Shih LY; Wasserstein M; Rasmussen MB; Lund AM; Procopis P; Cameron JM; Robinson BH; Brown GK; Brown RM; Compton AG; Dieckmann CL; Collard R; Coughlin CR; Spector E; Wempe MF; Van Hove JLK, 2014, 'Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5', Brain, 137, pp. 366 - 379, http://dx.doi.org/10.1093/brain/awt328
    Journal articles | 2014
    Bhattacharya K; Balasubramaniam S; Choy YSI; Fietz M; Fu A; Jin DKY; Kim OH; Kosuga M; Kwun YHE; Inwood A; Lin HY; McGill J; Mendelsohn NJ; Okuyama T; Samion H; Tan A; Tanaka A; Thamkunanon V; Toh TH; Yang AD; Lin SP, 2014, 'Overcoming the barriers to diagnosis of Morquio A syndrome', Orphanet journal of rare diseases, 9, pp. 192, http://dx.doi.org/10.1186/s13023-014-0192-7
    Journal articles | 2014
    Bhattacharya K; Wotton T; Wiley V, 2014, 'The evolution of blood-spot newborn screening', TRANSLATIONAL PEDIATRICS, 3, pp. 63 - 70, http://dx.doi.org/10.3978/j.issn.2224-4336.2014.03.08
    Journal articles | 2014
    Estrella J; Wilcken B; Carpenter K; Bhattacharya K; Tchan M; Wiley V, 2014, 'Expanded newborn screening in New South Wales: missed cases', Journal of Inherited Metabolic Disease, 37, pp. 881 - 887, http://dx.doi.org/10.1007/s10545-014-9727-2
    Journal articles | 2012
    Coman D; Bhattacharya K, 2012, 'Extended newborn screening: An update for the general paediatrician', Journal of Paediatrics and Child Health, 48, http://dx.doi.org/10.1111/j.1440-1754.2011.02199.x
    Journal articles | 2011
    Bhattacharya K, 2011, 'Dietary dilemmas in the management of glycogen storage disease type I', Journal of Inherited Metabolic Disease, 34, pp. 621 - 629, http://dx.doi.org/10.1007/s10545-011-9322-8
    Journal articles | 2011
    Maillot F; Bhattacharya K; Lilburn M; Morley D; Lee P, 2011, 'Effet d’un amidon de maïs modifié sur la tolérance au jeûne des patients adultes atteints de glycogénose de type 1', La Revue de Médecine Interne, 32, pp. S146 - S146, http://dx.doi.org/10.1016/j.revmed.2011.03.237
    Journal articles | 2009
    Shanti B; Silink M; Bhattacharya K; Howard NJ; Carpenter K; Fietz M; Clayton P; Christodoulou J, 2009, 'Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency', Journal of Inherited Metabolic Disease, 32, http://dx.doi.org/10.1007/s10545-009-1180-2
    Journal articles | 2008
    Correia CE; Bhattacharya K; Lee PJ; Shuster JJ; Theriaque DW; Shankar MN; Smit GPA; Weinstein DA, 2008, 'Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib', American Journal of Clinical Nutrition, 88, pp. 1272 - 1276, http://dx.doi.org/10.3945/ajcn.2008.26352
    Journal articles | 2007
    Bhattacharya K; Orton RC; Qi X; Mundy H; Morley DW; Champion MP; Eaton S; Tester RF; Lee PJ, 2007, 'A novel starch for the treatment of glycogen storage diseases', Journal of Inherited Metabolic Disease, 30, pp. 350 - 357, http://dx.doi.org/10.1007/s10545-007-0479-0
    Journal articles | 2006
    Bhattacharya K; Khalili V; Wiley V; Carpenter K; Wilcken B, 2006, 'Newborn screening may fail to identify intermediate forms of maple syrup urine disease.', Journal of inherited metabolic disease, 29, pp. 586, http://dx.doi.org/10.1007/s10545-006-0366-0
    Journal articles | 2004
    Bhattacharya K; Heaton N; Rela M; Walter JH; Lee PJ, 2004, 'The benefits of liver transplantation in glycogenosis type Ib', Journal of Inherited Metabolic Disease, 27, pp. 539 - 540, http://dx.doi.org/10.1023/B:BOLI.0000037400.49488.20
    Journal articles | 2003
    Bhattacharya K; Rahman S; Leonard J, 2003, 'Diagnosis and management of mitochondrial respiratory chain disorders', Current Paediatrics, 13, pp. 536 - 542, http://dx.doi.org/10.1016/j.cupe.2003.08.006
  • Conference Abstracts | 2024
    Batten K; Selvanathan A; Stormon M; Thomas G; Preddy J; Bhattacharya K, 2024, 'Dietary management in MPV17-related depletion syndrome pre- and post- liver transplant: A case study', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, NC, Charlotte, Vol. 141, presented at 45th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), NC, Charlotte, 14 April 2024 - 17 April 2024, http://dx.doi.org/10.1016/j.ymgme.2024.108207
    Preprints | 2023
    Nevin S; McGill B; Kelada L; Hilton G; Donnell M; Elvidge K; Farrar M; Baynam G; Katz N; Donovan L; Grattan S; Signorelli C; Bhattacharya K; Nunn K; Wakefield C, 2023, ‘The psychosocial impact of childhood dementia on children and their parents: A systematic review’, http://dx.doi.org/10.21203/rs.3.rs-2282768/v1
    Preprints | 2023
    Rius R; Compton AG; Baker NL; Balasubramaniam S; Best S; Bhattacharya K; Boggs K; Boughtwood T; Braithwaite J; Bratkovic D; Bray A; Brion M-J; Burke J; Casauria S; Chong B; Coman D; Cowie S; Cowley M; de Silva MG; Delatycki MB; Edwards S; Ellaway C; Fahey MC; Finlay K; Fletcher J; Frajman LE; Frazier AE; Gayevskiy V; Ghaoui R; Goel H; Goranitis I; Haas M; Hock DH; Howting D; Jackson MR; Kava MP; Kemp M; King-Smith S; Lake NJ; Lamont PJ; Lee J; Long JC; MacShane M; Madelli EO; Martin EM; Marum JE; Mattiske T; McGill J; Metke A; Murray S; Panetta J; Phillips LK; Quinn MCJ; Ryan MT; Schenscher S; Simons C; Smith N; Stroud DA; Tchan MC; Tom M; Wallis M; Ware TL; Welch AE; Wools C; Wu Y; Christodoulou J; Thorburn DR, 2023, The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses, http://dx.doi.org/10.1101/2023.11.08.23298009
    Preprints | 2021
    Sankaran BP; Gupta S; Tchan M; Devanapalli B; Rahman Y; Procopis P; Bhattacharya K, 2021, GLRX5-associated [Fe-S] Cluster Biogenesis Disorder: Further Characterisation of the Neurological Phenotype and Long-term Outcome., http://dx.doi.org/10.21203/rs.3.rs-614803/v1
    Conference Papers | 2020
    Frazier AE; Compton AG; Kishita Y; Hock DH; Welch AE; Amarasekera SSC; Rius R; Formosa LE; Imai-Okazaki A; Francis D; Wang M; Lake NJ; Tregoning S; Jabbari JS; Lucattini A; Nitta R; Ohtake A; Murayama K; Amor DJ; McGillivray G; Wong FY; van der Knaap MS; Vermeulen RJ; Wiltshire EJ; Fletcher JM; Lewis B; Baynam G; Ellaway C; Balasubramaniam S; Bhattacharya K; Freckmann ML; Taft RJ; Sadedin S; Cowley MJ; Minoche AE; Calvo SE; Mootha VK; Ryan MT; Okazaki Y; Stroud DA; Simons C; Christodoulou J; Thorburn DR, 2020, 'Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 56 - 58
    Conference Abstracts | 2018
    Riley LG; Cowley MJ; Gayevskiy V; Roscioli T; Balasubramaniam S; Thorburn DR; Bahlo M; Sue CM; Coman D; Kava M; Bhattacharya K; Ellaway CJ; Christodoulou J, 2018, 'Next generation sequencing (NGS) for mitochondrial respiratory chain disorders (MRCD): new genes, cautionary tales and lessons learnt', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 198 - 199, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101187&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2018
    Selvanathan A; Ellaway C; Wilson C; Owens P; Shaw P; Bhattacharya K, 2018, 'Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type II: A case series', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. S127 - S128, presented at We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, CA, San Diego, 05 February 2018 - 09 February 2018, http://dx.doi.org/10.1016/j.ymgme.2017.12.348
    Conference Papers | 2016
    Jayasuriya G; Robinson P; Bhattacharya K; Ellaway C; Fitzgerald D; Gustaffson P; Pandit C; Kennedy B; King G; Owens P; Selvadurai H, 2016, 'PERIPHERAL AIRWAY FUNCTION IN CHILDREN WITH LYSOSOMAL STORAGE DISORDERS', in RESPIROLOGY, WILEY-BLACKWELL, pp. 182 - 182, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000373102400408&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2012
    Baker P; Scharer G; Creadon-Swindel G; Aicher J; Shaikh T; Frerman F; Friederich M; Spector E; Cameron J; Robinson B; Bhattacharya K; Thorburn D; Raiman J; Charu D; Lee W-T; Freckmann M-L; Shih L-Y; Wasserstein M; Arranz Arno JA; Riudor E; del Toro M; Scalais E; Van Hove J, 2012, 'Defects in lipoate synthesis cause variant non-ketotic hyperglycinemia', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, NC, Charlotte, pp. 289 - 290, presented at 35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), NC, Charlotte, 31 March 2012 - 03 April 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000301906400022&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2012
    Bhattacharya K; Dennison B; Thompson S, 2012, 'DOES HYPERGLYCAEMIA CONTRIBUTE TO CIRRHOSIS IN GLYCOGEN STORAGE DISEASE DUE TO PHKG2 DEFICIENCY?', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S81 - S81, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000307513100280&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2012
    Bhattacharya K; Gupta S; Wilcken B; Procopis P; Spector E; Creadon-Swindel G; Aicher J; Thorburn D; Scharer G; Van Hove J, 2012, 'SPASTIC DIPLEGIA IN A NOVEL FORM OF NON-KETOTIC HYPERGLCYCINAEMIA DUE TO GLRX5 DEFICIENCY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S119 - S119, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000307513100415&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2011
    Bhattacharya K; Fisk K; Bennetts B, 2011, 'TWO DE NOVO MUTATIONS AT THE SAME NUCLEOTIDE IN THE OTC GENE OF A MALE', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S91 - S91, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800055&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2011
    Mundy H; Smith F; Cullup T; Bhattacharya K; Rahman Y; Vara R; Champion M; Deshpande C, 2011, 'NEXT GENERATION SEQUENCING (NGS) FOR GLYCOGEN STORAGE DISEASES (GSDS) THE FIRST UKGTN APPROVED NGS DIAGNOSTIC STRATEGY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S173 - S173, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800343&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2011
    Thompson SM; Dalkeith T; Bhattacharya K; Ellaway C; Christodoulou J, 2011, 'SIMPLIFYING THE KETOGENIC DIET EXPERIENCE IN PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S246 - S246, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800579&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2011
    Thompson SM; Yip Q; Dennison B; Watson P; Coakley J; Alexander I; Bhattacharya K; Ellaway C; Christodoulou J, 2011, 'NUTRITIONAL ASSESSMENT OF PATIENTS WITH METABOLIC DISORDERS', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S240 - S240, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800560&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2010
    Bhattacharya K; Ho G; Dalkeith T; Dennison I; Thompson S; Christodoulou J, 2010, 'IMPROVEMENT IN SEVERE HMG CO-LYASE DEFICIENCY WITH FAT RESTRICTION AND 3-HYDROXYBUTYRATE THERAPY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S62 - S62, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000161&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2010
    Carpenter K; Bhattacharya K; Ellaway C; Zschocke J; Pitt JJ, 2010, 'IMPROVED SENSITIVITY FOR HMG CoA SYNTHASE DETECTION USING KEY MARKERS ON ORGANIC ACID SCREEN', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S62 - S62, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000162&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2010
    Dalkeith T; Dennison B; Wilcken B; Ellaway C; Thompson S; Carpenter K; Bhattacharya K, 2010, 'DIFFICULTIES IN THE DIETETIC MANAGEMENT OF PATIENTS WITH EARLY CHILDHOOD ONSET: MULTIPLE ACYL CO-A DEHYDROGENASE DEFICIENCY (MADD)', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S173 - S173, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000562&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2009
    Bhattacharya K; Wiley V; Roy B; Ellaway CJ; Alexander I; Dennison B; Thompson S; Christodoulou J; Carpenter KH; Wileken B, 2009, 'NEWBORN SCREENING FOR MAPLE SYRUP URINE DISEASE (MSUD) BY TANDEM MASS SPECTROMETRY: OUTCOME', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 109 - 110, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600462&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2009
    Dalkeith T; Bhattacharya K; Holmes-Walker J; Christodoulou J; Wilcken B, 2009, 'ISSUES FOR THE INTEGRATED CARE OF CHILDREN AND ADULTS WITH INBORN ERRORS OF METABOLISM', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 132 - 133, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600562&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1
    Conference Papers | 2009
    Thompson SM; Dennison B; Wiley V; Carpenter K; Wilcken B; Bhattacharya K; Alexander I; Ellaway C; Christodoulou J, 2009, 'DIETETIC ISSUES IN THE MANAGEMENT OF MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY DIAGNOSED BY NEWBORN SCREENING', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 117 - 117, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600492&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Newborn GenSeq TRAIL - therapy ready and information for life - examining the technical and system aspects of genomic newborn screening.

gEnomics4newborns - Integrating Ethics and Equity with Effectivess and Economics for genomic newborn screening

A structured exercise intervention in children and young adults with McArdle disease (GSD V)

The impact of exogenous ketones on exercise capacity in children with inborn errors of muscle energy metabolism

Improving health outcomes by identifying biomarkers to delineate common mechanistic pathways and to monitor therapeutic effect of clinical trials in childhood dementia