Publications by authors named "Raymond Y Wang"

43Publications

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations.

Authors:
Raymond Y Wang

Int J Neonatal Screen 2020 Mar 14;6(1):22. Epub 2020 Mar 14.

Division of Metabolic Disorders, CHOC Children's Specialists, Orange, CA 92868, USA;

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http://dx.doi.org/10.3390/ijns6010022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7422979PMC
March 2020

Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.

Pediatr Neurol 2020 09 4;110:64-70. Epub 2020 May 4.

Department of Pediatrics, Irvine School of Medicine, University of California, Orange, California; Department of Metabolic Disorders, Children's Hospital of Orange County, CHOC Children's Specialists, Orange, California.

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.04.018DOI Listing
September 2020

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

Mol Genet Metab 2019 01 8;126(1):53-63. Epub 2018 Nov 8.

Division of Metabolic Disorders, CHOC Children's Hospital, Orange, CA 92868, USA; Department of Pediatrics, University of California Irvine, Orange, CA 92868, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183059
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http://dx.doi.org/10.1016/j.ymgme.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7707637PMC
January 2019

Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis.

JIMD Rep 2018 13;39:31-37. Epub 2017 Jul 13.

Department of Pediatrics, University of California, Irvine School of Medicine, Orange, CA, 92868, USA.

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http://dx.doi.org/10.1007/8904_2017_43DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953895PMC
July 2017

Aortic Root Dilatation in Mucopolysaccharidosis I-VII.

Int J Mol Sci 2016 Nov 29;17(12). Epub 2016 Nov 29.

Department of Pediatrics, University of California-Irvine School of Medicine, Orange, CA 92868, USA.

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http://dx.doi.org/10.3390/ijms17122004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5187804PMC
November 2016

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

World J Pediatr 2014 Feb 25;10(1):83-5. Epub 2014 Jan 25.

Division of Metabolic Disorders, CHOC Children's Foundation, Department of Pediatrics, University of California Irvine School of Medicine, Orange, CA, USA,

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http://link.springer.com/content/pdf/10.1007/s12519-014-0458
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http://link.springer.com/10.1007/s12519-014-0458-0
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http://dx.doi.org/10.1007/s12519-014-0458-0DOI Listing
February 2014

Carotid intima-media thickness is increased in patients with mucopolysaccharidoses.

Mol Genet Metab 2011 Dec 10;104(4):592-6. Epub 2011 Sep 10.

Division of Metabolic Disorders, Pediatric Subspecialty Faculty, CHOC Children's, Orange, CA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3924772PMC
December 2011

Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.

Am J Med Genet A 2011 Apr 15;155A(4):742-7. Epub 2011 Mar 15.

Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ajmg.a.33914DOI Listing
April 2011

Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

Mol Genet Metab 2009 Dec 5;98(4):406-11. Epub 2009 Aug 5.

Division of Metabolic Disorders, Pediatric Subspecialty Faculty, CHOC Children's, Orange, CA 92868, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.07.015DOI Listing
December 2009

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

Genet Med 2007 Jan;9(1):34-45

Medical Genetics Institute, Department of Pediatrics, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1097/gim.0b013e31802d8321DOI Listing
January 2007

A previously unreported mutation in a Currarino syndrome kindred.

Am J Med Genet A 2006 Sep;140(18):1923-30

Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California 90048, USA.

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http://dx.doi.org/10.1002/ajmg.a.31420DOI Listing
September 2006