J. Lee

发表

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

P. Striano, N. Longo, C. V. van Karnebeek, 2020, Journal of inherited metabolic disease.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB.

A. Shaywitz, S. Maricich, R. Giugliani, 2022, The Journal of pediatrics.

X-linked Adrenoleukodystrophy in Three Filipino Families

M. Tan, M. A. Chiong, J. Lee, 2009 .

Ethylmalonic encephalopathy masquerading as meningococcemia

S. Goergen, J. Christodoulou, D. Phelan, 2022, Cold Spring Harbor molecular case studies.

International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up

H. Freeze, M. Patterson, Christina Lam, 2019, Journal of inherited metabolic disease.

Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females

J. Wen, K. Loomes, C. Prada, 2020, American journal of medical genetics. Part A.

Enzyme Replacement Therapy in Filipino Patients with Gaucher Disease and Pompe Disease

C. Silao, M. A. Chiong, S. Estrada, 2009 .

A critically ill child with dark urine

D. Efron, H. Peters, Amir M Zayegh, 2018, Archives of Disease in Childhood: Education & Practice Edition.

Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations

D. Mackey, C. Sue, J. Christodoulou, 2021, Internal medicine journal.

Carpal tunnel syndrome in pediatric mucopolysaccharidoses

A. Kornberg, M. Ryan, H. Peters, 2015 .

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

J. Rosenfeld, I. Scheffer, S. Nelson, 2019, Human mutation.

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Melissa J. Davis, M. Bodén, S. Hediyeh-zadeh, 2021, Nature Communications.

Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia

N. Brown, J. Pitt, M. Marty, 2020, JIMD reports.

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

N. Brown, J. Christodoulou, Z. Stark, 2022, International journal of molecular sciences.