Literature DB >> 7474909

Infantile form of carnitine palmitoyltransferase II deficiency in a girl with rapid fatal onset.

C Vianey-Saban1, N Stremler, O Paut, T Buttin, P Divry, M T Zabot, J Camboulives, M Mathieu, B Mousson.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1995        PMID： 7474909     DOI： 10.1007/bf00710434

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  3 in total

Review 1.  Carnitine palmitoyl transferase I deficiency presenting as a Reye-like syndrome without hypoglycaemia.

Authors:  C Vianey-Saban; B Mousson; C Bertrand; D Stamm; R Dumoulin; M T Zabot; P Divry; D Floret; M Mathieu
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

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

Authors:  F Demaugre; J P Bonnefont; M Colonna; C Cepanec; J P Leroux; J M Saudubray
Journal:  J Clin Invest       Date:  1991-03       Impact factor: 14.808

3.  Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

Authors:  F Taroni; E Verderio; F Dworzak; P J Willems; P Cavadini; S DiDonato
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330
  3 in total
  3 in total

Review 1.  Defects in activation and transport of fatty acids.

Authors:  M Brivet; A Boutron; A Slama; C Costa; L Thuillier; F Demaugre; D Rabier; J M Saudubray; J P Bonnefont
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation.

Authors:  Zahra Alsahlawi; Zainab Fadhul; Ali Mahmood; Ali Mohamed; Mohamed Khalil; Emtithal Aljishi
Journal:  Cureus       Date:  2022-06-17

3.  Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.

Authors:  Ivan Shelihan; Elsa Rossignol; Jean-Claude Décarie; Jean-Paul Bonnefont; Michèle Brivet; Catherine Brunel-Guitton; Grant A Mitchell
Journal:  JIMD Rep       Date:  2021-09-29
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.