Výsledky vyhledávání - "Lp, Den Heuvel"

Autor: En, Levtchenko, Wilmer M, Ac, Graaf-Hess, Lp, Den Heuvel, Henk Blom, La, Monnens

Publikováno v: Europe PubMed Central

Cystinosis is an autosomal recessive disorder caused by an impaired transport of cystine out of lysosomes. The most severe infantile form of cystinosis starts with Fanconi syndrome at the age of 3-6 months. Untreated patients develop renal failure be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3e337e3023197279472ae20e831c4594
http://europepmc.org/abstract/med/15042893

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Homocysteine metabolism in endothelial cells of a patient homozygous for cystathionine beta-synthase (CS) deficiency

Autor: Ef, Molen, Mj, Hiipakka, van Lith-Zanders H, Gh, Boers, Lp, Den Heuvel, La, Monnens, Henk Blom

Publikováno v: Europe PubMed Central

Homocystinuria due to cystathionine beta-synthase (CS) deficiency is the most common inborn error of methionine metabolism. Patients with CS-deficiency have an extremely high risk of vascular disease. The underlying mechanism is still unsolved. Dysfu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3e46e83bbf5e3ef54c65077c0fad931e
http://europepmc.org/abstract/med/9268179

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Inhibition of DNA methylation in malignant MOLT F4 lymphoblasts by 6-mercaptopurine

Autor: Lh, Lambooy, Peter Leegwater, Lp, Den Heuvel, Jp, Bökkerink, Ra, Abreu

Publikováno v: Europe PubMed Central

Treatment of MOLT F4 lymphoblasts with 6-mercaptopurine (6-MP) resulted in a decrease of ATP and a depletion of S-adenosylmethionine (AdoMet). To investigate whether this might affect the methylation of DNA, we treated MOLT F4 lymphoblasts with incre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::640cd8ea69e43dc26b7d84516ab1b452
http://europepmc.org/abstract/med/9510861

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A new era in the diagnosis and treatment of atypical haemolytic uraemic syndrome

Autor: Westra D, Jf, Wetzels, Elena Volokhina, Lp, Den Heuvel, Nc, Kar

Publikováno v: Europe PubMed Central

The haemolytic uraemic syndrome (HUS) is characterised by haemolytic anaemia, thrombocytopenia and acute renal failure. The majority of cases are seen in childhood and are preceded by an infection with Shiga-like toxin producing Escherichia coli (STE

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5c3996fbff02ce58a88a330ef88e3e8a
http://europepmc.org/abstract/med/22516576

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