Zobrazeno 1 - 5
of 5
pro vyhledávání: '"C. M. L. van Dael"'
Autor:
O. P. van Diggelen, Dirk Reijngoud, Klaziena Niezen-Koning, L. J. W. M. Pierik, van FrancJan Spronsen, C. M. L. van Dael
Publikováno v:
Molecular Genetics and Metabolism, 90(2), 221-223. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 90(2), 221-223. Academic Press
Molecular Genetics and Metabolism, 90(2), 221-223. Academic Press
Partial hypoxanthine-guanine phosphoribosyl transferase (HGPRT) deficiency, also known as the Kelley-Seegmiller syndrome, can give rise to a wide range of neurological symptoms, and renal insufficiency. Biochemically, it is characterized by high uric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15fb3ddd0975efc86d691fe10fba0d4b
https://doi.org/10.1016/j.ymgme.2006.10.011
https://doi.org/10.1016/j.ymgme.2006.10.011
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 150(25)
X-linked hypophosphataemic rickets is associated with mutations in the PHEX gene on the short arm of the X chromosome, encoding a membrane-bound endoprotease which is predominantly expressed in osteoblasts. Defective PHEX function leaves phosphaturic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::286fe7343454b4d01241e73b42fda153
https://pubmed.ncbi.nlm.nih.gov/17061325
https://pubmed.ncbi.nlm.nih.gov/17061325
Publikováno v:
Journal of Inherited Metabolic Disease, 28(6), 871-876. SPRINGER
Hereditary tyrosinaemia type I is an autosomal recessive inborn error of tyrosine catabolism caused by a deficiency of the enzyme fumarylacetoacetase that results in liver failure, hepatocellular carcinoma, renal tubular dysfunction and acute intermi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f71427583f58d9290400295cec3e658c
https://research.rug.nl/en/publications/523997f4-ca40-43d2-bc94-3e0b5a9dac50
https://research.rug.nl/en/publications/523997f4-ca40-43d2-bc94-3e0b5a9dac50
Publikováno v:
Journal of Inherited Metabolic Disease. 29:597-597
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ea71de45e8c43de54d1d941bf44d0a6b
https://doi.org/10.1007/s10545-006-9994-7
https://doi.org/10.1007/s10545-006-9994-7
Autor:
J. Vande Walle, C. M. L. van Dael, Elena Levtchenko, Marc R. Lilien, Elisabeth A.M. Cornelissen, R E A van der Rijken, Martine T.P. Besouw, G M Hulstijn-Dirkmaat
Publikováno v:
ResearcherID
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 33(6), 787-793. SPRINGER
Journal of Inherited Metabolic Disease, 33, 787-93
Journal of Inherited Metabolic Disease, 33, 6, pp. 787-93
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 33(6), 787-793. SPRINGER
Journal of Inherited Metabolic Disease, 33, 787-93
Journal of Inherited Metabolic Disease, 33, 6, pp. 787-93
Contains fulltext : 89600.pdf (Publisher’s version ) (Closed access) INTRODUCTION: Cystinosis is an autosomal recessive disorder leading to intralysosomal cystine accumulation in various tissues. It causes renal Fanconi syndrome and end stage renal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ace8cad8d0dc9890ec0809fab328468
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000268584500218&KeyUID=WOS:000268584500218
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000268584500218&KeyUID=WOS:000268584500218