Zobrazeno 1 - 4
of 4
pro vyhledávání: '"J. J. Weits-Binnerts"'
Publikováno v:
Tijdschrift voor kindergeneeskunde. 61(5)
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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::29c4ba20aced18a43115d8d31f5620a9
https://pubmed.ncbi.nlm.nih.gov/8266315
https://pubmed.ncbi.nlm.nih.gov/8266315
Publikováno v:
Tijdschrift voor kindergeneeskunde. 53(5)
A 9 weeks old boy with infantile globoid cell leukodystrophy is presented. Clinical features consisted of insufficient weight gain, hypertonic musculature, irritability, loss of previously attained skills, loss of visual function, elevation of the ce
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f16929617bb6858053bd22f59610a76d
https://pubmed.ncbi.nlm.nih.gov/3937290
https://pubmed.ncbi.nlm.nih.gov/3937290
Autor:
S. K. Wadman, R. Berger, M. Duran, P. K. De Bree, S. A. Stoker-De Vries, F. A. Beemer, J. J. Weits-Binnerts, T. J. Penders, J. K. Van Der Woude
Publikováno v:
Inherited Disorders of Vitamins and Cofactors ISBN: 9789401180214
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45b4c9af3056406051635e70fcc81b46
https://doi.org/10.1007/978-94-011-8019-1_28
https://doi.org/10.1007/978-94-011-8019-1_28
Autor:
J. J. Weits-Binnerts, T. J. Penders, Rudolphus Berger, Marinus Duran, J. K. van der Woude, P.K. De Bree, Sybe K. Wadman, Frits A. Beemer, S. A. Stoker-de Vries
Publikováno v:
Clinica Chimica Acta, 141(2-3), 227. Elsevier
The number of known inherited defects of pyrimidine metabolism is small. At least for a part this may be due to the fact that there is no typical end product, such as uric acid in purine metabolism. Furthermore, urinary pyrimidines are not easily acc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f11bc0dcd99e115bb955cdc41256528
https://pubmed.ncbi.nlm.nih.gov/6488556
https://pubmed.ncbi.nlm.nih.gov/6488556