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[Pathological findings in galactosemia caused by a galactose-1-phosphaturidyltransferase defect (author's transl)].
Klin Padiatr. 1977 Mar; 189(2):177-84.KP

Abstract

In the past, galactosemis was considered to be one disorder; today it is subdivided into various enzymopathies. The enzymopathy occuring most frequently is the disorder with galactose-i-phosphaturidyl transferase. The morphologic equivalent of this desease was described on the basis of two letal cases involving siblings. The parents and the third child in this family (born 6 years later) showed only a 50% reduction in galactose-1-phosphaturidyltransferease activity in the erythrocytes. This was a heterozygous form of glactosemia without manifestations.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ger

PubMed ID

558474

Citation

Gathmann, H A.. "[Pathological Findings in Galactosemia Caused By a Galactose-1-phosphaturidyltransferase Defect (author's Transl)]." Klinische Padiatrie, vol. 189, no. 2, 1977, pp. 177-84.
Gathmann HA. [Pathological findings in galactosemia caused by a galactose-1-phosphaturidyltransferase defect (author's transl)]. Klin Padiatr. 1977;189(2):177-84.
Gathmann, H. A. (1977). [Pathological findings in galactosemia caused by a galactose-1-phosphaturidyltransferase defect (author's transl)]. Klinische Padiatrie, 189(2), 177-84.
Gathmann HA. [Pathological Findings in Galactosemia Caused By a Galactose-1-phosphaturidyltransferase Defect (author's Transl)]. Klin Padiatr. 1977;189(2):177-84. PubMed PMID: 558474.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Pathological findings in galactosemia caused by a galactose-1-phosphaturidyltransferase defect (author's transl)]. A1 - Gathmann,H A, PY - 1977/3/1/pubmed PY - 1977/3/1/medline PY - 1977/3/1/entrez SP - 177 EP - 84 JF - Klinische Padiatrie JO - Klin Padiatr VL - 189 IS - 2 N2 - In the past, galactosemis was considered to be one disorder; today it is subdivided into various enzymopathies. The enzymopathy occuring most frequently is the disorder with galactose-i-phosphaturidyl transferase. The morphologic equivalent of this desease was described on the basis of two letal cases involving siblings. The parents and the third child in this family (born 6 years later) showed only a 50% reduction in galactose-1-phosphaturidyltransferease activity in the erythrocytes. This was a heterozygous form of glactosemia without manifestations. SN - 0300-8630 UR - https://www.unboundmedicine.com/medline/citation/558474/[Pathological_findings_in_galactosemia_caused_by_a_galactose_1_phosphaturidyltransferase_defect__author's_transl_]_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -