Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: A unique case of γ‐hydroxybutyric aciduria and Williams syndrome-Reference-Cited by-同舟云学术

Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: A unique case of γ‐hydroxybutyric aciduria and Williams syndrome

Published:2007-04-30 Issue:7 Volume:144B Page:946-948
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Knerr Ina¹²,Michael Gibson K.²,Ganesh Jaya³,Bennett Michael J.³,Salomons Gajja S.⁴,Jakobs Cornelis⁴,Myers Scott M.⁵

Affiliation:

1. Children's and Adolescents' Hospital, University of Erlangen‐Nuremberg, Erlangen, Germany

2. Departments of Pediatrics, Pathology and Human Genetics, Biochemical Genetics Laboratory, Children's Hospital Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania

3. Departments of Pediatrics and Pathology & Laboratory Medicine, University of Pennsylvania and The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

4. VU University Medical Center, Metabolic Unit, Amsterdam, The Netherlands

5. Neurodevelopmental Pediatrics, Janet Weis Children's Hospital, Geisinger Medical Center, Danville, Pennsylvania

Funder

NIH NS 40270

Pediatric Neurotransmitter Disease Association

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.b.30553

Reference18 articles.