Literature DB >> 1961225

Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II.

G Hug1, K E Bove, S Soukup.   

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Year:  1991        PMID： 1961225     DOI： 10.1056/NEJM199112263252607

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  18 in total

Review 1.  Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Authors:  Go Tajima; Keiichi Hara; Miori Yuasa
Journal:  J Hum Genet       Date:  2018-12-04       Impact factor: 3.172

2.  Carnitine palmitoyltransferase II deficiency: diagnosis by molecular analysis of blood.

Authors:  P Kaufmann; M el-Schahawi; S DiMauro
Journal:  Mol Cell Biochem       Date:  1997-09       Impact factor: 3.396

3.  Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survival.

Authors:  Petra Hissink-Muller; Enrico Lopriore; Carolien Boelen; Frans Klumper; Marinus Duran; Frans Walther
Journal:  BMJ Case Rep       Date:  2009-06-26

Review 4.  Metabolic cardiomyopathies.

Authors:  B Guertl; C Noehammer; G Hoefler
Journal:  Int J Exp Pathol       Date:  2000-12       Impact factor: 1.925

5.  Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.

Authors:  K Gempel; S Kiechl; S Hofmann; H Lochmüller; U Kiechl-Kohlendorfer; J Willeit; W Sperl; A Rettinger; I Bieger; D Pongratz; K D Gerbitz; M F Bauer
Journal:  J Inherit Metab Dis       Date:  2002-02       Impact factor: 4.982

Review 6.  On the molecular etiology of decreased arachidonic (20:4n-6), docosapentaenoic (22:5n-6) and docosahexaenoic (22:6n-3) acids in Zellweger syndrome and other peroxisomal disorders.

Authors:  J P Infante; V A Huszagh
Journal:  Mol Cell Biochem       Date:  1997-03       Impact factor: 3.396

Review 7.  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

Review 8.  Inborn errors of energy metabolism associated with myopathies.

Authors:  Anibh M Das; Ulrike Steuerwald; Sabine Illsinger
Journal:  J Biomed Biotechnol       Date:  2010-05-26

9.  Reduced human lymphocyte blastogenesis and enhancement of adenosine triphosphate (ATP) by L-carnitine.

Authors:  P Conti; M Reale; S Stuard; G Spoto; F Picerno; T Ferrara; F C Placido; R C Barbacane; A Albertazzi; B M Errichi
Journal:  Mol Cell Biochem       Date:  1994-02-09       Impact factor: 3.396

10.  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
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