Symptoms and signs in organic acidurias.

Journal of inherited metabolic disease ·Vol. 7 Suppl 1 ·1984-00-00 ·Pages 23-7

Brandt NJ

Abstract

Organic acidaemias can present with a wide variety of signs and symptoms. A survey of the clinical presentation of the organic acidurias shows that single symptoms are not characteristic or diagnostic. Clinical awareness coupled with appropriate laboratory investigation is required for the correct diagnosis to be reached.

MeSH Terms

Acids/blood,urine Amino Acid Metabolism, Inborn Errors/diagnosis Carbohydrate Metabolism, Inborn Errors/diagnosis Humans Infant, Newborn Metabolism, Inborn Errors/diagnosis

Chemicals

Acids

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Brandt N J

References (41)

41 references, click to expand

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Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

10.1007/BF03047369

Published

1984-00-00

Pages

23-7

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

PubMed source DOI: 10.1007/BF03047369 View journal details

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Symptoms and signs in organic acidurias.

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