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Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.78-78, Article 78

2017

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Rates of genetic testing in patients prescribed drugs with pharmacogenomic information in FDA-approved labeling

The pharmacogenomics journal, 2021-06, Vol.21 (3), p.318-325

2021

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An assessment of the psychometric properties of the Coping Strategies Questionnaire - Sickle Cell Disease (CSQ-SCD) among adults in the United States

Health and quality of life outcomes, 2024-04, Vol.22 (1), p.35-35, Article 35

2024

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Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Journal of medical genetics, 2016-06, Vol.53 (6), p.403-418

2016

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Expanded newborn screening in New South Wales: missed cases

Journal of inherited metabolic disease, 2014-11, Vol.37 (6), p.881-887

2014

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The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Genetics in medicine, 2020-07, Vol.22 (7), p.1254-1261

2020

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International Congress of Inborn Errors of Metabolism (ICIEM) Sydney 2021

Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.863-863

Bhattacharya, Kaustuv

2022

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Effects of health beliefs, social support, and self-efficacy on sun protection behaviors among medical students: testing of an extended health belief model

Archives of Dermatological Research, 2021-08, Vol.313 (6), p.445-452

2021

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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.465-12, Article 465

2021

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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, 2020-02, Vol.15 (1), p.53-53, Article 53

2020

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The psychosocial impact of childhood dementia on children and their parents: a systematic review

Orphanet journal of rare diseases, 2023-09, Vol.18 (1), p.1-277, Article 277

2023

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Association of antecedent statin use on 30-day, 60-day and 90-day mortality among Mississippi Medicaid beneficiaries diagnosed with COVID-19

BMJ open, 2023-11, Vol.13 (11), p.e076195-e076195

2023

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Incidence and risk factors of immune‐related adverse events induced by immune checkpoint inhibitors among older adults with non‐small cell lung cancer

Cancer medicine (Malden, MA), 2024-01, Vol.13 (1), p.e6879-n/a

2024

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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

PloS one, 2017-06, Vol.12 (6), p.e0178125-e0178125

2017

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Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

Nutrients, 2023-01, Vol.15 (3), p.531

2023

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Intronic variants in inborn errors of metabolism: Beyond the exome

Frontiers in genetics, 2022-12, Vol.13, p.1031495-1031495

2022

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Diagnosis and management of children with McArdle Syndrome ( GSD V) in New South Wales

JIMD reports, 2023-09, Vol.64 (5), p.327-336

2023

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Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

JIMD reports, 2021-09, Vol.61 (1), p.3-11

2021

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3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

JIMD reports, 2022-11, Vol.63 (6), p.568-574

2022

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Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

JIMD reports, 2021-07, Vol.60 (1), p.88-95

2021

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A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency

JIMD reports, 2022-07, Vol.63 (4), p.271-275

2022

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Dietary dilemmas in the management of glycogen storage disease type I

Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.621-629

Bhattacharya, Kaustuv

2011

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Dietary Management of the Ketogenic Glycogen Storage Diseases

Journal of inborn errors of metabolism and screening, 2016-08, Vol.4, p.232640981666135

2016

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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, 2020, Vol.8

2020

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Exercise testing and prescription in patients with inborn errors of muscle energy metabolism

Journal of inherited metabolic disease, 2023-09, Vol.46 (5), p.763-777

2023

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Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome

Rates of genetic testing in patients prescribed drugs with pharmacogenomic information in FDA-approved labeling

An assessment of the psychometric properties of the Coping Strategies Questionnaire - Sickle Cell Disease (CSQ-SCD) among adults in the United States

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Expanded newborn screening in New South Wales: missed cases

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

International Congress of Inborn Errors of Metabolism (ICIEM) Sydney 2021

Effects of health beliefs, social support, and self-efficacy on sun protection behaviors among medical students: testing of an extended health belief model

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders

The psychosocial impact of childhood dementia on children and their parents: a systematic review

Association of antecedent statin use on 30-day, 60-day and 90-day mortality among Mississippi Medicaid beneficiaries diagnosed with COVID-19

Incidence and risk factors of immune‐related adverse events induced by immune checkpoint inhibitors among older adults with non‐small cell lung cancer

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

Intronic variants in inborn errors of metabolism: Beyond the exome

Diagnosis and management of children with McArdle Syndrome ( GSD V) in New South Wales

Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in aspartylglucosaminuria: A case series

3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency

Dietary dilemmas in the management of glycogen storage disease type I

Dietary Management of the Ketogenic Glycogen Storage Diseases

Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study

Exercise testing and prescription in patients with inborn errors of muscle energy metabolism

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