J. Yaplito-Lee

发表

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

W. Sly, C. Ross, W. Wasserman, 2014, American journal of human genetics.

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

S. Ferdinandusse, H. Waterham, R. Wanders, 2014, Brain : a journal of neurology.

Patient safety in genomic medicine: an exploratory study

Clara Gaff, Dylan Mordaunt, Alicia Oshlack, 2016, Genetics in Medicine.

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

B. Andresen, N. Gregersen, A. Boneh, 2006, Molecular genetics and metabolism.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.

A. V. van Kuilenburg, N. Laing, M. Delatycki, 2022, Molecular genetics and metabolism.

Cardiac manifestations in oxidative phosphorylation disorders of childhood.

R. Weintraub, D. Thorburn, A. Boneh, 2007, The Journal of pediatrics.

Mitochondrial Oxidative Phosphorylation Disorders Presenting in Neonates: Clinical Manifestations and Enzymatic and Molecular Diagnoses

D. Thorburn, A. Boneh, J. Yaplito-Lee, 2008, Pediatrics.

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.

D. Phelan, Z. Stark, L. Coleman, 2017, Seminars in pediatric neurology.

Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP

F. Wong, J. Reiss, G. Schwarz, 2010, Pediatrics.

New indications and controversies in arginine therapy.

A. Boneh, J. Yaplito-Lee, D. Coman, 2008, Clinical nutrition.

A retrospective audit of anesthetic techniques and complications in children with mucopolysaccharidoses

J. Yaplito-Lee, S. Donath, H. Peters, 2012, Paediatric anaesthesia.

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

C. Saunders, S. Rahman, S. Wortmann, 2017, Journal of Inherited Metabolic Disease.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

T. Meitinger, T. Strom, H. Prokisch, 2015, American journal of human genetics.

Riboflavin metabolism: role in mitochondrial function

S. Balasubramaniam, J. Yaplito-Lee, 2020 .

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Michael F. Wangler, E. Zackai, J. Lupski, 2014, American journal of human genetics.

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature

D. Amor, J. Yaplito-Lee, J. Pitt, 2020, JIMD reports.

SURF1 deficiency: a multi-centre natural history study

Robert W. Taylor, E. Aasheim, S. Rahman, 2013, Orphanet Journal of Rare Diseases.

Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder.

C. Simons, S. White, J. Yaplito-Lee, 2021, European Journal of Medical Genetics.

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1).

J. Yaplito-Lee, D. Bruno, H. Slater, 2010, Molecular genetics and metabolism.

Expanded Newborn Screening: Outcome in Screened and Unscreened Patients at Age 6 Years

Janice Fletcher, Pamela Joy, Kevin Carpenter, 2009, Pediatrics.

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

A. Vanderver, C. Stutterd, J. Freeman, 2019, JIMD reports.

Histopathological findings in livers of patients with urea cycle disorders.

A. Boneh, J. Yaplito-Lee, C. Chow, 2013, Molecular genetics and metabolism.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

Newborn screening for glutaric aciduria type I in Victoria: treatment and outcome.

A. Boneh, J. Yaplito-Lee, M. Beauchamp, 2008, Molecular genetics and metabolism.

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

A. Boneh, J. Zschocke, J. Yaplito-Lee, 2015, Journal of Inherited Metabolic Disease.

A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes

Beryl B. Cummings, J. Christodoulou, A. Kornberg, 2023, American journal of medical genetics. Part A.

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy

E. Morava, S. White, J. Yaplito-Lee, 2020, JIMD reports.

Neuronal ceroid lipofuscinosis type 2: an Australian case series

I. Scheffer, S. Mandelstam, M. Ryan, 2020, Journal of paediatrics and child health.

Beta-ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.

A. V. van Kuilenburg, L. Zoetekouw, J. Yaplito-Lee, 2008, Molecular genetics and metabolism.

MOGS‐CDG: Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases

W. Reardon, J. Christodoulou, U. Engelke, 2023, Journal of inherited metabolic disease.

Cognitive and behaviour profiles of children with mucopolysaccharidosis Type II

V. Anderson, J. Yaplito-Lee, H. Peters, 2017, Cognitive neuropsychology.

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

M. Delatycki, J. Yaplito-Lee, J. Pitt, 2023, JIMD reports.

ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

G. Matthijs, D. Reddihough, J. Jaeken, 2013, Molecular genetics and metabolism.

FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.

S. Balasubramaniam, K. Bhattacharya, J. Yaplito-Lee, 2021, Molecular genetics and metabolism.