R. Chang

发表

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet

S. Ferdinandusse, J. Abdenur, J. Pitt, 2020, Molecular genetics and metabolism reports.

Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.

J. Abdenur, P. Rinaldo, D. Matern, 2010, Molecular genetics and metabolism.

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

J. Abdenur, J. Orsini, M. Caggana, 2012, Molecular genetics and metabolism.

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

F. Eichler, D. Zafeiriou, B. Echenne, 2012, Annals of neurology.

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

V. Kimonis, E. McCabe, W. Kulik, 2013, JIMD reports.

Continuation of pegvaliase treatment during pregnancy: A case report

Cristel C. Chapel-Crespo, M. Sowa, J. Skaar, 2021, Molecular genetics and metabolism reports.

Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease

J. Abdenur, R. Chang, N. Elbalalesy, 2014, Molecular genetics and metabolism reports.

Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

J. Abdenur, R. Chang, R. Wang, 2012, Molecular genetics and metabolism.

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion.

J. Martinez-Agosto, J. Abdenur, N. Khanlou, 2016, Molecular genetics and metabolism.

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation

N. Matsumoto, M. Shiina, K. Ogata, 2013, Human mutation.

Associations Among Genotype, Clinical Phenotype, and Intracellular Localization of Trafficking Proteins in ARC Syndrome

S. Watson, C. Baumann, J. Klumperman, 2012, Human mutation.

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.

R. Taft, J. Abdenur, B. Braffman, 2019, Molecular genetics and metabolism.

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Eric W. Klee, Ange-Line Bruel, Sophie Nambot, 2019, Genetics in Medicine.

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

J. Shendure, D. Nickerson, Martin Kircher, 2017, Mitochondrion.

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes

F. Del Bene, C. Compagnucci, M. Tartaglia, 2022, Human molecular genetics.

Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass

J. Abdenur, A. Chang, Raymond Y. Wang, 2014, World Journal of Pediatrics.

D‐glyceric aciduria is caused by genetic deficiency of D‐glycerate kinase (GLYCTK)

J. Sass, E. Christensen, Raymond Y. Wang, 2010, Human mutation.

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

T. Kleefstra, C. Fagerberg, M. Kurian, 2021, medRxiv.

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

J. Abdenur, D. Bali, L. Wong, 2014, JIMD reports.

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

B. Graham, J. Abdenur, L. Wong, 2008, Molecular genetics and metabolism.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

A. Starr, A. Busch, Eddie Park, 2015, PLoS genetics.

Title Mutations of Human NARS 2 , Encoding the Mitochondrial Asparaginyl-tRNA Synthetase , Cause Nonsyndromic Deafness and Leigh Syndrome Permalink

A. Starr, A. Busch, Eddie Park, 2015 .

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

M. Hegde, H. Freeze, J. Abdenur, 2013, Molecular genetics and metabolism.

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency

H. Waterham, J. Abdenur, Cristel C. Chapel-Crespo, 2020, Molecular Genetics and Metabolism Reports.

The role of sterol-C4-methyl oxidase in epidermal biology.

Laurie D. Smith, J. Vockley, Xueli Li, 2014, Biochimica et biophysica acta.