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[Late diagnosis of classical galactosemia. An adult with special biochemistry].
Tijdschr Kindergeneeskd. 1993 Oct; 61(5):188-90.TK

Abstract

The atypical case history of a galactosemic patient who was not recognized as such until his 22nd year is described. As in classical galactosemia there was not found any galactose-1-phosphate uridyl transferase activity in the erythrocytes. However, after the patient was on a galactose-free diet, there was no demonstrable elevation of galactose-1-phosphate in the erythrocytes. We would advocate a limited screening on galactosemia.

Authors+Show Affiliations

Weits-Binnerts JJ
Observatie-afdeling Hendrik van Boeijen-Oord, Assen.
Hordijk R
No affiliation info available
Smit GP
No affiliation info available
van der Veer E
No affiliation info available
Reijngoud DJ
No affiliation info available
Berger R
No affiliation info available

MeSH

AdultErythrocytesGalactosemiasHumansIntellectual DisabilityMaleUTP-Hexose-1-Phosphate Uridylyltransferase

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

dut

PubMed ID

8266315

Citation

Weits-Binnerts, J J., et al. "[Late Diagnosis of Classical Galactosemia. an Adult With Special Biochemistry]." Tijdschrift Voor Kindergeneeskunde, vol. 61, no. 5, 1993, pp. 188-90.
Weits-Binnerts JJ, Hordijk R, Smit GP, et al. [Late diagnosis of classical galactosemia. An adult with special biochemistry]. Tijdschr Kindergeneeskd. 1993;61(5):188-90.
Weits-Binnerts, J. J., Hordijk, R., Smit, G. P., van der Veer, E., Reijngoud, D. J., & Berger, R. (1993). [Late diagnosis of classical galactosemia. An adult with special biochemistry]. Tijdschrift Voor Kindergeneeskunde, 61(5), 188-90.
Weits-Binnerts JJ, et al. [Late Diagnosis of Classical Galactosemia. an Adult With Special Biochemistry]. Tijdschr Kindergeneeskd. 1993;61(5):188-90. PubMed PMID: 8266315.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Late diagnosis of classical galactosemia. An adult with special biochemistry]. AU - Weits-Binnerts,J J, AU - Hordijk,R, AU - Smit,G P, AU - van der Veer,E, AU - Reijngoud,D J, AU - Berger,R, PY - 1993/10/1/pubmed PY - 1993/10/1/medline PY - 1993/10/1/entrez SP - 188 EP - 90 JF - Tijdschrift voor kindergeneeskunde JO - Tijdschr Kindergeneeskd VL - 61 IS - 5 N2 - The atypical case history of a galactosemic patient who was not recognized as such until his 22nd year is described. As in classical galactosemia there was not found any galactose-1-phosphate uridyl transferase activity in the erythrocytes. However, after the patient was on a galactose-free diet, there was no demonstrable elevation of galactose-1-phosphate in the erythrocytes. We would advocate a limited screening on galactosemia. SN - 0376-7442 UR - https://www.unboundmedicine.com/medline/citation/8266315/[Late_diagnosis_of_classical_galactosemia__An_adult_with_special_biochemistry]_ L2 - http://www.diseaseinfosearch.org/result/2973 DB - PRIME DP - Unbound Medicine ER -