Literature DB >> 28466427

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

M Bellusci1, P Quijada-Fraile2, D Barrio-Carreras2, E Martin-Hernandez2, M Garcia-Silva2, B Merinero3, B Perez3, A Hernandez-Lain4.   

Abstract

Entities:  

Keywords:  Carnitine; Carnitine Palmitoyltransferase; Creatine Kinase; Hypoglycemia; Pediatric Intensive Care Unit

Mesh：

Substances：

Year:  2017        PMID： 28466427     DOI： 10.1007/s10545-017-0041-7

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


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  5 in total

1.  Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.

Authors:  Beom Hee Lee; Yoo-Mi Kim; Ja Hye Kim; Gu-Hwan Kim; Jae-Min Kim; Joo Hyun Kim; Kyu Ha Woo; Song Hyun Yang; Chong Jai Kim; In-Hee Choi; Han-Wook Yoo
Journal:  J Pediatr Gastroenterol Nutr       Date:  2015-03       Impact factor: 2.839

2.  Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).

Authors:  C H Britton; D W Mackey; V Esser; D W Foster; D K Burns; D P Yarnall; P Froguel; J D McGarry
Journal:  Genomics       Date:  1997-02-15       Impact factor: 5.736

3.  Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

Authors:  R Fingerhut; W Röschinger; A C Muntau; T Dame; J Kreischer; R Arnecke; A Superti-Furga; H Troxler; B Liebl; B Olgemöller; A A Roscher
Journal:  Clin Chem       Date:  2001-10       Impact factor: 8.327

4.  Features of carnitine palmitoyltransferase type I deficiency.

Authors:  S E Olpin; J Allen; J R Bonham; S Clark; P T Clayton; J Calvin; M Downing; K Ives; S Jones; N J Manning; R J Pollitt; S J Standing; M S Tanner
Journal:  J Inherit Metab Dis       Date:  2001-02       Impact factor: 4.982

5.  Atypical features of the hepatic form of carnitine palmitoyltransferase deficiency in a Hutterite family.

Authors:  J C Haworth; F Demaugre; F A Booth; L A Dilling; S P Moroz; S S Seshia; L E Seargeant; P M Coates
Journal:  J Pediatr       Date:  1992-10       Impact factor: 4.406
  5 in total
  1 in total

Review 1.  Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Authors:  Anastasia Ambrose; Melissa Sheehan; Shalini Bahl; Taryn Athey; Shailly Ghai-Jain; Alicia Chan; Saadet Mercimek-Andrews
Journal:  Orphanet J Rare Dis       Date:  2022-09-15       Impact factor: 4.303
  1 in total

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