Literature DB >> 3411399

Dilated cardiomyopathy with neutropenia, short stature, and abnormal carnitine metabolism.

T Ino1, W G Sherwood, E Cutz, L N Benson, V Rose, R M Freedom.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 3411399     DOI： 10.1016/s0022-3476(88)80642-5

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  12 in total

1.  Mutation characterization and genotype-phenotype correlation in Barth syndrome.

Authors:  J Johnston; R I Kelley; A Feigenbaum; G F Cox; G S Iyer; V L Funanage; R Proujansky
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

Review 2.  TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome.

Authors:  Anders O Garlid; Calvin T Schaffer; Jaewoo Kim; Hirsh Bhatt; Vladimir Guevara-Gonzalez; Peipei Ping
Journal:  Gene       Date:  2019-10-21       Impact factor: 3.688

Review 3.  X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

Authors:  P G Barth; R J Wanders; P Vreken; E A Janssen; J Lam; F Baas
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

4.  Barth syndrome is associated with a cognitive phenotype.

Authors:  Michèle M M Mazzocco; Anne E Henry; Richard I Kelly
Journal:  J Dev Behav Pediatr       Date:  2007-02       Impact factor: 2.225

5.  X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

Authors:  A K Gedeon; M J Wilson; A C Colley; D O Sillence; J C Mulley
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

6.  Possible X linked congenital mitochondrial cardiomyopathy in three families.

Authors:  K H Orstavik; F Skjörten; M Hellebostad; P Hågå; A Langslet
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

7.  [Decreased plasma carnitine in Type I diabetes mellitus].

Authors:  P Pregant; G Schernthaner; E Legenstein; L Lienhart; S Bruck; C Schnack; E Kaiser
Journal:  Klin Wochenschr       Date:  1991-08-16

8.  No effect of insulin treatment or glycemic improvement on plasma carnitine levels in type 2 diabetic patients.

Authors:  P Pregant; E Kaiser; G Schernthaner
Journal:  Clin Investig       Date:  1993-08

9.  Dilated cardiomyopathy with 3-methylglutaconic aciduria.

Authors:  J M Draaisma; I C van Kesteren; O Daniëls; R C Sengers
Journal:  Pediatr Cardiol       Date:  1994 Mar-Apr       Impact factor: 1.655

10.  Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria.

Authors:  Devrim Acehan; Zaza Khuchua; Riekelt H Houtkooper; Ashim Malhotra; Johanna Kaufman; Frédéric M Vaz; Mindong Ren; Howard A Rockman; David L Stokes; Michael Schlame
Journal:  Mitochondrion       Date:  2008-12-11       Impact factor: 4.160
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.