Literature DB >> 10896292

The diagnosis of carnitine palmitoyltransferase II deficiency is now possible in small skeletal muscle biopsies.

I P Hargreaves1, S J Heales, S E Olpin, J A Morgan-Ughes, J M Land.   

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Year:  2000        PMID: 10896292     DOI: 10.1023/a:1005627113617

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


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  4 in total

1.  Profound carnitine palmitoyltransferase II deficiency.

Authors:  G Hug; K E Bove; S Soukup
Journal:  J Pediatr       Date:  1994-01       Impact factor: 4.406

2.  Carnitine palmitoyltransferase and carnitine octanoyltransferase activities in liver, kidney cortex, adipocyte, lactating mammary gland, skeletal muscle and heart.

Authors:  E D Saggerson; C A Carpenter
Journal:  FEBS Lett       Date:  1981-07-06       Impact factor: 4.124

3.  Neonatal carnitine palmitoyltransferase-2 deficiency: a case presenting with myopathy.

Authors:  J M Land; S Mistry; M Squier; P Hope; I Ghadiminejad; M Orford; D Saggerson
Journal:  Neuromuscul Disord       Date:  1995-03       Impact factor: 4.296

4.  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

  4 in total
  2 in total

1.  Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Authors:  S E Olpin; A Afifi; S Clark; N J Manning; J R Bonham; A Dalton; J V Leonard; J M Land; B S Andresen; A A Morris; F Muntoni; D Turnbull; M Pourfarzam; S Rahman; R J Pollitt
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

Review 2.  Rhabdomyolysis caused by carnitine palmitoyltransferase 2 deficiency: A case report and systematic review of the literature.

Authors:  Nicholas Ivin; Valentina Della Torre; Francis Sanders; Matthew Youngman
Journal:  J Intensive Care Soc       Date:  2019-12-18
  2 in total

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