[A boy with abdominal pain and a hypertympanic abdomen]

Autor: Annette P M, van den Elzen, Marc A, Benninga

Publikováno v: Nederlands tijdschrift voor geneeskunde. 164

A 6-year-old boy, known with Potocki-Lupski syndrome (17p11.2 duplication), mild intellectual disability and constipation, presented with episodes of abdominal pain. His defecation pattern was normal with polyethylene glycol. Physical examination sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::02e4bae69c14a046ef8fe0495cfc3d2b
https://pubmed.ncbi.nlm.nih.gov/32186814

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Autor: Nelson Neves, Ruben Ramos, Gajja S. Salomons, Ramon Bonte, Mirjam M.C. Wamelink, George J. G. Ruijter, Isabel Tavares de Almeida, Arvand Haschemi, Luísa Diogo, Benjamin Nota, Annette P. M. van den Elzen, Paula Garcia

Publikováno v: Wamelink, M M C, Ramos, R J J F, van den Elzen, A P M, Ruijter, G J G, Bonte, R, Diogo, L, Garcia, P, Neves, N, Nota, B, Haschemi, A, de Almeida, I T & Salomons, G 2015, ' First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? ', Journal of Inherited Metabolic Disease, vol. 38, no. 5, pp. 889-894 . https://doi.org/10.1007/s10545-014-9809-1
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 38(5), 889-894. Springer Netherlands

We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogrypo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67cc55cba121593e49e4683951db9724
https://doi.org/10.1007/s10545-014-9809-1

[Untitled]

Autor: Maria A. J. de Ridder, Cuno S.P.M. Uiterwaal, Diederick E. Grobbee, Jacqueline C.M. Witteman, Albert Hofman, Annette P. M. van den Elzen

Publikováno v: American Journal of Hypertension. 17:936-940

Background Previous studies on familial aggregation of blood pressure (BP) have reported data on family history of hypertension. Data on actual parental BP levels and the subsequent natural history of BP in their offspring are scarce. Methods In a po

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::61bfe57d63b774174da87f3cf9cef61b
https://doi.org/10.1016/j.amjhyper.2004.06.010

Alcohol intake and aortic stiffness in young men and women

Autor: Michiel L. Bots, Lydia E Vos, Jacqueline C.M. Witteman, Diederick E. Grobbee, Anath Oren, Cuno S.P.M. Uiterwaal, Aafje Sierksma, Henk F. J. Hendriks, Annette P. M. van den Elzen

Publikováno v: Journal of Hypertension, 23(4), 731-735. Lippincott Williams & Wilkins
Journal of Hypertension, 23(4), 731. Lippincott Williams and Wilkins
Journal of Hypertension, 4, 23, 731-735

Background: Moderate alcohol consumption has been shown to protect against cardiovascular disease. Aortic stiffness can be regarded as a marker of cardiovascular disease risk. Previously we have shown an inverse to J-shaped association between alcoho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17ebe3ce7df877da765e2480d8b540e8
https://dspace.library.uu.nl/handle/1874/12507

Families and the natural history of blood pressure. A 27-year follow-up study

Autor: Annette P M, van den Elzen, Maria A J, de Ridder, Diederick E, Grobbee, Albert, Hofman, Jacqueline C M, Witteman, Cuno S P M, Uiterwaal

Publikováno v: American journal of hypertension. 17(10)

Previous studies on familial aggregation of blood pressure (BP) have reported data on family history of hypertension. Data on actual parental BP levels and the subsequent natural history of BP in their offspring are scarce.In a population-based study

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a5bcf3b6c934c78d645a2245da847577
https://pubmed.ncbi.nlm.nih.gov/15485757