Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Open Access
- 11 December 2019
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 22 (4), 686-697
- https://doi.org/10.1038/s41436-019-0713-9
Abstract
No abstract availableThis publication has 118 references indexed in Scilit:
- Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutationsMolecular Genetics and Metabolism, 2013
- A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationBMC Medical Genetics, 2012
- The measurement of urinary Δ1‐piperideine‐6‐carboxylate, the alter ego of α‐aminoadipic semialdehyde, in Antiquitin deficiencyJournal of Inherited Metabolic Disease, 2012
- Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disordersJournal of Lipid Research, 2008
- Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor NeuropathyAmerican Journal of Human Genetics, 2006
- Identification of PAHX, a Refsum disease geneNature Genetics, 1997
- Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase geneBiochemical and Biophysical Research Communications, 1991
- Molecular analysis of human acatalasemia: Identification of a splicing mutationJournal of Molecular Biology, 1990
- Biochemical abnormalities in rhizomelic chondrodysplasia punctataThe Journal of Pediatrics, 1988
- Cerebro-hepato-renal syndrome of Zellweger: A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolismThe Journal of Pediatrics, 1975