Antenatal diagnosis of maple syrup urine disease.

Zeitschrift fur Kinderheilkunde ·Vol. 118 ·No. 3 ·1974-00-00 ·Pages 225-9

Hoo JJ, Latta E, Schaumlöffel E

Abstract

暂无摘要

MeSH Terms

Amniocentesis Cells, Cultured Clinical Enzyme Tests Extraembryonic Membranes/cytology,enzymology Female Humans Karyotyping Maple Syrup Urine Disease/diagnosis,embryology Pregnancy Prenatal Diagnosis

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Hoo J J

Latta E

Schaumlöffel E

References (11)

11 references, click to expand

A modified method of culturing human amniotic fluid cells for prenatal detection of genetic disorders.
Humangenetik. 1972;14(4):333-4 PMID: 5051758
[ANOTHER HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE].
Klin Wochenschr. 1963 Oct 1;41:941-3 PMID: 14092944
Maple syrup urine disease: rapid prenatal diagnosis by enzyme assay.
Humangenetik. 1973;19(1):127-8 PMID: 4725909
[On the diet therapy of maple syrup urine disease (leucinosis)].
Monatsschr Kinderheilkd. 1965 Jun;113(6):420-8 PMID: 5829592
DETECTION OF THE HETEROZYGOTE IN MAPLE SYRUP URINE DISEASE.
J Pediatr. 1965 Mar;66:595-603 PMID: 14264316
THE METABOLISM OF LEUCINE IN TISSUE CULTURE OF SKIN FIBROBLASTS OF MAPLE-SYRUP-URINE DISEASE.
Biochim Biophys Acta. 1963 Nov 8;77:523-4 PMID: 14089436
[PROCEDURE FOR A SIMPLIFIED HETEROZYGOTE TEST FOR THE MAPLE SYRUP URINE DISEASE].
Klin Wochenschr. 1964 Aug 15;42:818-9 PMID: 14301617
[HETEROZYGOTE TEST FOR MAPLE SYRUP URINE DISEASE. DETERMINATION OF THE ENZYMATIC ACTIVITY OF ALPHA-KETOISOCAPROIC ACID OXIDASE IN LEUKOCYTES].
Klin Wochenschr. 1963 Oct 1;41:953-4 PMID: 14092946
Detection of heterozygotes in maple syrup urin disease: role of lymphocyte count.
Humangenetik. 1968;6(2):189-90 PMID: 5704438
Metabolism of the white blood cells in maple-syrup-urine disease.
Biochim Biophys Acta. 1960 Sep 23;43:342-3 PMID: 13719556
A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.
Pediatrics. 1954 Nov;14(5):462-7 PMID: 13214961

Article Info

Journal

Zeitschrift fur Kinderheilkunde

Abbr.

Z Kinderheilkd

ISSN

0044-2917

DOI

10.1007/BF00464613

Published

1974-00-00

Pages

225-9

Language

English

Region

Germany

NLM ID

7604363

Subset

External Links

PubMed source DOI: 10.1007/BF00464613

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Antenatal diagnosis of maple syrup urine disease.

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