Barth syndrome without 3-methylglutaconic aciduria

M. Rahbek Schmidt; N. Birkebaek; I. Gonzalez; L. Sunde

doi:10.1080/08035250410022837

Barth syndrome without 3-methylglutaconic aciduria

M. Rahbek Schmidt^*, N. Birkebaek, I. Gonzalez, L. Sunde

^*Corresponding author for this work

Research output: Contribution to journal › Journal article › Research › peer-review

34 Citations (Scopus)

Abstract

Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.

Original language	English
Journal	Acta Paediatrica
Volume	93
Issue number	3
Pages (from-to)	419-421
Number of pages	3
ISSN	0803-5253
DOIs	https://doi.org/10.1080/08035250410022837
Publication status	Published - Mar 2004
Externally published	Yes

Keywords

Cardiomyopathy
Congenital heart disease
X-linked

Access to Document

10.1080/08035250410022837

AUB Link

Search for the material in Aalborg University Library's search engine

Cite this

@article{7e97b87587c14395bb6c5715da0a0e58,

title = "Barth syndrome without 3-methylglutaconic aciduria",

abstract = "Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.",

keywords = "Cardiomyopathy, Congenital heart disease, X-linked",

author = "{Rahbek Schmidt}, M. and N. Birkebaek and I. Gonzalez and L. Sunde",

year = "2004",

month = mar,

doi = "10.1080/08035250410022837",

language = "English",

volume = "93",

pages = "419--421",

journal = "Acta Paediatrica",

issn = "0803-5253",

publisher = "Wiley-Blackwell",

number = "3",

}

TY - JOUR

T1 - Barth syndrome without 3-methylglutaconic aciduria

AU - Rahbek Schmidt, M.

AU - Birkebaek, N.

AU - Gonzalez, I.

AU - Sunde, L.

PY - 2004/3

Y1 - 2004/3

N2 - Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.

AB - Barth syndrome involves cardiomyopathy, skeletal myopathy, neutropenia and 3-methylglutaconic (3-mgc) aciduria. 3-mgc aciduria has been observed in almost all reported cases and has served as a diagnostic criterion. Conclusion: A case of confirmed BTHS, but without 3-mgc aciduria, emphasizes the importance of extensive investigations in cases with suspected hereditary cardiomyopathy.

KW - Cardiomyopathy

KW - Congenital heart disease

KW - X-linked

UR - http://www.scopus.com/inward/record.url?scp=1542283612&partnerID=8YFLogxK

U2 - 10.1080/08035250410022837

DO - 10.1080/08035250410022837

M3 - Journal article

C2 - 15124852

AN - SCOPUS:1542283612

SN - 0803-5253

VL - 93

SP - 419

EP - 421

JO - Acta Paediatrica

JF - Acta Paediatrica

IS - 3

ER -

Barth syndrome without 3-methylglutaconic aciduria

Abstract

Keywords

Access to Document

AUB Link

Other files and links

Fingerprint

Cite this