Concepedia

Hepatic Carnitine Palmitoyl Transferase 1 (CPT1 A) Deficiency in North American Hutterites (Canadian and American): Evidence for a Founder Effect and Results of a Pilot Study on a DNA-Based Newborn Screening Program

C. Prasad, John P. Johnson, Jean‐Paul Bonnefont, Louise A. Dilling, A. Micheil Innes, J. C. Haworth, Linda Beischel, Laure Thuillier, Carina Prip‐Buus, Rupinder Singal,

Molecular Genetics and Metabolism · 2001 · 50 citations · 23 references

DOI

Concepts

References

23

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency

P.F. Bougneres, Jean-M. Saudubray, C. Marsac et al. · The Journal of Pediatrics · 1981 · 179 citations

, , +10

Hepatic Carnitine Palmitoyltransferase I Deficiency Presenting as Maternal Illness in Pregnancy

A. Micheil Innes, L.E. Seargeant, K. Balachandra et al. · Pediatric Research · 2000 · 152 citations

, , +14

Diagnosis of organic acidemias by gas chromatography--mass spectrometry.

Stephen I. Goodman, Sanford P. Markey · PubMed · 1981 · 149 citations

, , +12

Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.

Charles H. Britton, Roger A. Schultz, Bin Zhang et al. · Proceedings of the National Academy of Sciences · 1995 · 144 citations

, , +13

Hepatic and Muscular Presentations of Carnitine Palmitoyl Transferase Deficiency: Two Distinct Entities

France Demaugre, Jean‐Paul Bonnefont, Grant Mitchell et al. · Pediatric Research · 1988 · 131 citations

, , +10