Zobrazeno 1 - 10
of 217
pro vyhledávání: '"Waterham, H R"'
Autor:
Dekker, M. C. J., Sadiq, A. M., Mc Larty, R., Mbwasi, R. M., Willemsen, M. A. A. P., Waterham, H. R., Hamel, B. C.
Publikováno v:
Case Reports in Genetics.
Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disorder with classical features, which can be also recognised in a low resource setting. It had been described in various populations across the globe, but very few cases have been reported from
Autor:
Klouwer, F. C. C., Meester-Delver, A., Vaz, F. M., Waterham, H. R., Hennekam, R. C. M., Poll-The, B. T.
Publikováno v:
Clinical Genetics, 93(3), 613-621. Wiley-Blackwell
Clinical genetics, 93(3), 613-621. Wiley-Blackwell
Clinical genetics, 93(3), 613-621. Wiley-Blackwell
The lack of a validated severity scoring system for individuals with Zellweger spectrum disorders (ZSD) hampers optimal patient care and reliable research. Here, we describe the development of such severity score and its validation in a large, well-c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b16eaa1345dafca12d056a6c534397fb
https://research.vumc.nl/en/publications/f5af8512-40d8-4c69-8d29-e6c1b80a4e51
https://research.vumc.nl/en/publications/f5af8512-40d8-4c69-8d29-e6c1b80a4e51
Autor:
Maxit, C., Denzler, I., Marchione, D., Agosta, G., Koster, J., Wanders, R. J. A., Ferdinandusse, S., Waterham, H. R.
Publikováno v:
JIMD reports, 34, 71-75. Springer Berlin
Peroxisome biogenesis disorders (PBDs) may have a variable clinical expression, ranging from severe, lethal to mild phenotypes with progressive evolution. PBDs are autosomal recessive disorders caused by mutations in PEX genes, which encode proteins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::6ff0fe91ee2eaa75c1f6a10cad9a3867
https://pure.amc.nl/en/publications/novel-pex3-gene-mutations-resulting-in-a-moderate-zellweger-spectrum-disorder(117a1012-4f47-409b-a88f-fe9ae62f3f6a).html
https://pure.amc.nl/en/publications/novel-pex3-gene-mutations-resulting-in-a-moderate-zellweger-spectrum-disorder(117a1012-4f47-409b-a88f-fe9ae62f3f6a).html
Akademický článek
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Autor:
Jira, P. E.1, Waterham, H. R.2, Wanders, R. J. A.1, Smeitink, J. A. M.1, Sengers, R. C. A.1, Wevers, R. A.3
Publikováno v:
Annals of Human Genetics. May2003, Vol. 67 Issue 3, p269-280. 12p.
Autor:
Abeling, N. G.G.M., Duran, M., Bosch, A. M., Wanders, R. J.A., Wijburg, F. A., Waterham, H. R.
Publikováno v:
Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde, 36(4), 226-227. Nederlandse Vereniging voor Klinische Chemie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::c76168f40152046c470c89b7dbb4b7c3
https://pure.amc.nl/en/publications/milde-multipele-acylcoa-dehydrogenase-deficientie-madd(d8b6a3ec-6ac4-4cb8-ba64-d2a831924f5b).html
https://pure.amc.nl/en/publications/milde-multipele-acylcoa-dehydrogenase-deficientie-madd(d8b6a3ec-6ac4-4cb8-ba64-d2a831924f5b).html
Autor:
Zwijnenburg, P. J. G., Deurloo, K. L., Waterham, H. R., Meijers-Heijboer, E. J., van Vugt, J. M. G., Tan-Sindhunata, M. B.
Publikováno v:
Prenatal Diagnosis, 30(2), 162-164. John Wiley and Sons Ltd
Zwijnenburg, P J G, Deurloo, K L, Waterham, H R, Meijers-Heijboer, E J, van Vugt, J M G & Sindhunata, M B 2010, ' Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings ', Prenatal Diagnosis, vol. 30, no. 2, pp. 162-164 . https://doi.org/10.1002/pd.2425
Prenatal diagnosis, 30(2), 162-164. John Wiley and Sons Ltd
Zwijnenburg, P J G, Deurloo, K L, Waterham, H R, Meijers-Heijboer, E J, van Vugt, J M G & Sindhunata, M B 2010, ' Second trimester prenatal diagnosis of rhizomelic chondrodysplasia punctata type 1 on ultrasound findings ', Prenatal Diagnosis, vol. 30, no. 2, pp. 162-164 . https://doi.org/10.1002/pd.2425
Prenatal diagnosis, 30(2), 162-164. John Wiley and Sons Ltd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1f433e4ee2aac81315cc63300f2745b8
https://research.vumc.nl/en/publications/c33cada0-85d4-44ab-ad5e-83837da40100
https://research.vumc.nl/en/publications/c33cada0-85d4-44ab-ad5e-83837da40100
Publikováno v:
Laboratory Guide to the Methods in Biochemical Genetics, 483-495
STARTPAGE=483;ENDPAGE=495;TITLE=Laboratory Guide to the Methods in Biochemical Genetics
STARTPAGE=483;ENDPAGE=495;TITLE=Laboratory Guide to the Methods in Biochemical Genetics
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::129f4a72242d0e89942009e9e5f9131e
https://pure.amc.nl/en/publications/diagnosis-of-inherited-defects-of-cholesterol-biosynthesis(26850be0-334c-441c-bc3c-106e13cffdbc).html
https://pure.amc.nl/en/publications/diagnosis-of-inherited-defects-of-cholesterol-biosynthesis(26850be0-334c-441c-bc3c-106e13cffdbc).html
Autor:
Van Maldegem, B. T., Duran, M., Wanders, R. J.A., Niezen-Koning, K. E., Hogeveen, M., Ijlst, L., Waterham, H. R., Wijburg, F. A.
Publikováno v:
Nederlands tijdschrift voor geneeskunde, 152(30), 1678-1685. Bohn Stafleu van Loghum
Nederlands Tijdschrift voor Geneeskunde, 152(30), 1678-1685. NLM (Medline)
Nederlands Tijdschrift voor Geneeskunde, 152(30), 1678-1685. NLM (Medline)
Objective. To describe the clinical, genetic, and biochemical characteristics of short-chain acyl-CoA dehydrogenase deficiency (SCADD), a clinically heterogeneous metabolic disorder for which neonates are screened for in parts of the United States an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::55f6f42bfb2f30fa56cc06e07990f2a1
https://pure.amc.nl/en/publications/de-vetzuuroxidatiestoornis-short-chainacylcoadehydrogenase-deficientie-relatief-hoge-prevalentie-en-sterk-wisselend-fenotype-neonatale-screening-niet-geindiceerd(70b043bc-f12d-4ba7-9ffa-f38fef28c5eb).html
https://pure.amc.nl/en/publications/de-vetzuuroxidatiestoornis-short-chainacylcoadehydrogenase-deficientie-relatief-hoge-prevalentie-en-sterk-wisselend-fenotype-neonatale-screening-niet-geindiceerd(70b043bc-f12d-4ba7-9ffa-f38fef28c5eb).html
Autor:
Duran, M., Abeling, N. G. G. M., van Kuilenburg, A. B. P., Wanders, R. J. A., Waterham, H. R., van Pelt, J., Poland, D.C.W.
Publikováno v:
Clinical Chemistry behind the Dykes, 113-126
STARTPAGE=113;ENDPAGE=126;TITLE=Clinical Chemistry behind the Dykes
STARTPAGE=113;ENDPAGE=126;TITLE=Clinical Chemistry behind the Dykes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::59e828d725b715237a4703b4b95ffaab
https://pure.amc.nl/en/publications/inborn-errors-of-metabolism(f3504f58-c702-474e-a873-7815e2c04dbd).html
https://pure.amc.nl/en/publications/inborn-errors-of-metabolism(f3504f58-c702-474e-a873-7815e2c04dbd).html