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Journal of Inherited Metabolic Disease
Metadata
Title
Maple syrup urine disease: Mutation analysis in Turkish patients
Authors
A. Dursun
M. Henneke
K. Özgül
J. Gartner
T. Coşkun
A. Tokatli
H. S. Kalkanoğlu
M. Demirkol
U. Wendel
İ. Özalp
Publication date
01-05-2002
Publisher
Kluwer Academic Publishers
Published in
Journal of Inherited Metabolic Disease / Issue 2/2002
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1023/A:1015668425004

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Gas chromatographic–mass spectrometric newborn screening for propionic acidaemia by targeting methylcitrate in dried filter-paper urine samples

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Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria

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A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy

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3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing

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Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria

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Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids
Obesity Clinical Trial Summary

At a glance: The STEP trials

Read more

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

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