Genotype–phenotype correlations in <scp>CPT1A</scp> deficiency detected by newborn screening in Pacific populations-Reference-Cited by-同舟云学术

Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations

Published:2022-03-26 Issue:4 Volume:63 Page:322-329
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Bernhardt Isaac¹^ORCID,Glamuzina Emma¹,Dowsett Leah K.²³,Webster Dianne⁴,Knoll Detlef⁵,Carpenter Kevin⁶,Bennett Michael J.⁷,Maeda Michelle³⁸,Wilson Callum¹

Affiliation:

1. National Metabolic Service Auckland City Hospital and Starship Children's Hospital Auckland New Zealand

2. Department of Pediatrics University of Hawai'i John A. Burns School of Medicine Honolulu Hawai'i USA

3. Hawai'i Community Genetics Honolulu Hawai'i USA

4. Newborn Metabolic Screening Unit Auckland City Hospital Auckland New Zealand

5. Chemical Pathology (Section New Born Screening) Auckland City Hospital Auckland New Zealand

6. Human Genetics Society of Australasia Sydney Australia

7. Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

8. State of Hawai'i Department of Health Children with Special Health Needs Program Honolulu Hawai'i USA

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12271

Reference17 articles.

1. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle

2. The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

3. Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A

4. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.

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