Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency-Reference-Cited by-同舟云学术

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Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency

Published:2011-10-12 Issue:3 Volume:82 Page:232-239
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Fanin M,Anichini A,Cassandrini D,Fiorillo C,Scapolan S,Minetti C,Cassanello M,Donati MA,Siciliano G,D'Amico A,Lilliu F,Bruno C,Angelini C

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01786.x/fullpdf

Reference40 articles.

1. Muscle carnitine palmitoyl transferase deficiency and myoglobinuria.;DiMauro;Science,1973

2. Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyl transferase deficiency.;Kelly;Pediatrics,1989

3. Severe rhabdomyolysis with hypoglycaemia in an adult patient with carnitine palmitoyl transferase II deficiency.;Deutsch;Eur J Int Med,2008

4. Molecular characterization of inherited carnitine palmitoyl transferase II deficiency.;Taroni;Proc Natl Acad Sci USA,1992

5. Novel mutations associated with carnitine palmitoyl transferase II deficiency.;Taggart;Hum Mutat,1999

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2. Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome;Italian Journal of Pediatrics;2024-04-14

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