RichardC.ChangMDFABMGG, FABPM

PubMed

• 8 citations
  Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder.
  Holly Melland, Fabian Bumbak, Anna Kolesnik-Taylor, Elise Ng-Cordell, Abinayah John, Panayiotis Constantinou, Shelagh Joss, Martin Larsen, Christina Fagerberg, Lone Wa...> ;Genetics in Medicine. 2022 Apr 1
• 5 citations
  Continuation of pegvaliase treatment during pregnancy: A case report.
  Monica Boyer, Janette Skaar, Mary Sowa, Justin R. Tureson, Cristel C. Chapel-Crespo, Richard Chang> ;Molecular Genetics and Metabolism Reports. 2021 Jan 27
• 4 citations
  Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency
  Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Y. Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur> ;Molecular Genetics and Metabolism Reports. 2020 Sep 1
• 13 citations
  Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet.
  Jose E. Abdenur, Mary Sowa, M. Simon, Maija R. Steenari, J. Skaar, S. Eftekharian, Richard Chang, Sacha Ferdinandusse, James Pitt> ;Molecular Genetics and Metabolism Reports. 2020 Jul 3
• 17 citations
  Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
  Ash Zawerton, Cyril Mignot, Ashley N. Sigafoos, Patrick R. Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabe...> ;Genetics in Medicine. 2020 Mar 1
• 33 citations
  Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes.
  Mariella Simon, S. Eftekharian, Alexander Stover, Aaron F. Osborne, Bruce H. Braffman, Richard Chang, Raymond Y. Wang, Maija R. Steenari, Sha Tang, Paul Wuh-Liang Hwu,...> ;Molecular Genetics and Metabolism. 2019 Jan 1
• 17 citations
  Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
  Mariella Simon, Bobby G. Ng, Marisa W. Friederich, Raymond Y. Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J. Buckingham, Richard Chang, Jay Shendure, Debo...> ;Mitochondrion. 2017 May 1
• 74 citations
  Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
  Ashlee R. Stiles, Mariella Simon, Alexander Stover, S. Eftekharian, Negar Khanlou, Hanlin L. Wang, Shino Magaki, Hane Lee, Kate Partynski, Nagmeh Dorrani, Richard Chan...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 86 citations
  Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
  Mariella Simon, Elodie Richard, Xinjian Wang, Mohsin Shahzad, Vincent Huang, Tanveer A. Qaiser, Prasanth Potluri, Sarah E. Mahl, Antonio Davila, Sabiha Nazli, Saege Ha...> ;Plos Genetics. 2015 Mar 25
• 2 citations
  Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass
  Raymond Y. Wang, Richard Chang, Mary Sowa, Anthony C. Chang, Jose E. Abdenur> ;World Journal of Pediatrics. 2014 Jan 25
• 14 citations
  Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease.
  L.J. Sremba, Richard Chang, N.M. Elbalalesy, E.J. Cambray-Forker, Jose E. Abdenur> ;Molecular Genetics and Metabolism Reports. 2014 Jan 1
• 15 citations
  Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.
  Michelle T. Lieu, Bobby G. Ng, Jeffrey S. Rush, Tim Wood, Monica J. Basehore, Madhuri Hegde, Richard Chang, Jose E. Abdenur, Hudson H. Freeze, Raymond Y. Wang> ;Molecular Genetics and Metabolism. 2013 Dec 1
• 68 citations
  Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
  Noriko Miyake, Shoji Yano, Chika Sakai, Hideyuki Hatakeyama, Yuichi Matsushima, Masaaki Shiina, Yoriko Watanabe, James A Bartley, Jose E. Abdenur, Raymond Y. Wang, Ric...> ;Human Mutation. 2013 Mar 1
• 4 citations
  A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.
  Yuxin Fan, Jon G. Steller, Iris L. Gonzalez, Wim Kulik, Michelle Fox, Richard Chang, Brandy A. Westerfield, Anjan S. Batra, Raymond Y. Wang, Natalie M. Gallant, Liana ...> ;JIMD Reports. 2013 Apr 19
• 58 citations
  Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
  Holly Smith, Romain Galmes, Ekaterina Gogolina, Anna Straatman-Iwanowska, Kim Reay, Blerida Banushi, Christopher K. Bruce, Andrew R. Cullinane, Rene Romero, Richard Ch...> ;Human Mutation. 2012 Dec 1
• 105 citations
  Sepiapterin Reductase Deficiency: A Treatable Mimic of Cerebral Palsy
  Jennifer Friedman, Emmanuel Roze, Jose E. Abdenur, Richard Chang, Serena Gasperini, Veronica Saletti, Gurusidheshwar M. Wali, Hernan Eiroa, Brian G. R. Neville, Alex E...> ;Annals of Neurology. 2012 Apr 1
• 22 citations
  Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.
  R.L. Puckett, Joseph J. Orsini, G. M. Pastores, Raymond Y. Wang, Richard Chang, Carlos A. Saavedra-Matiz, Paola Torres, B. J. Zeng, Michele Caggana, Fred Lorey, Jose E...> ;Molecular Genetics and Metabolism. 2012 Jan 1
• 20 citations
  D‐glyceric aciduria is caused by genetic deficiency of D‐glycerate kinase (GLYCTK)
  Jörn Oliver Sass, Kathleen Fischer, Raymond Y. Wang, Ernst Christensen, Sabine Scholl-Bürgi, Richard Chang, Klaus Kapelari, Melanie Walter> ;Human Mutation. 2010 Nov 9
• 41 citations
  Maple syrup urine disease: Further evidence that newborn screening may fail to identify variant forms
  R.L. Puckett, Fred Lorey, Piero Rinaldo, Mark H. Lipson, Dietrich Matern, Mary Sowa, S. Levine, Richard Chang, Raymond Y. Wang, Jose E. Abdenur> ;Molecular Genetics and Metabolism. 2010 Jun 1
• 37 citations
  The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
  Ariel Brautbar, Jing Wang, Jose E. Abdenur, Richard Chang, Janet A. Thomas, Theresa A. Grebe, Cynthia Lim, Shao-Wen Weng, Brett H. Graham, Lee-Jun C. Wong> ;Molecular Genetics and Metabolism. 2008 Aug 1
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