Search Results - "Wijburg, H."

Alpha- N-acetylgalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis by de Jong, J., van den Berg, C., Wijburg, H., Willemsen, R., van Diggelen, O., Schindler, D., Hoevenaars, F., Wevers, R.

“…Two additional patients with α-N-acetylgalactosaminidase ( α-NAGA) deficiency are described. An 11-month-old girl with nonconsanguineous parents had…”
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Clinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature by van de Vlasakker, C J, Gabreëls, F J, Wijburg, H C, Wevers, R A

“…Analysis of recent literature on Niemann-Pick disease type C (NPC) reveals a broad clinical spectrum with diverse neurological manifestations. Diagnosis and…”
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Beta-mannosidosis and ethanolaminuria in a female patient by Wijburg, H, de Jong, J, Wevers, R, Bakkeren, J, Trijbels, F, Sengers, R

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Alpha-N-acetygalactosaminidase deficiency with mild clinical manifestations and difficult biochemical diagnosis by de Jong, J, van den Berg, C, Wijburg, H, Willemsen, R

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One thing begets another by Wijburg, H C, Heydendael, R J

“…In this article the signs and symptoms as well as the course and complications are described of a feverish disease contracted by a fourteen year old boy after…”
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An infant with 5 weeks of fever of unknown origin and a reasonably good clinical condition; leishmaniasis by Wijburg, H C, van Wieringen, P M, van der Zee, C L

“…In a Dutch infant, aged 10 months, with fever of unknown origin for 5 weeks and a relatively good clinical condition splenomegaly was present. Visceral…”
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Beta-mannosidosis and ethanolaminuria in a female patient by Wijburg, H, de Jong, J, Wevers, R, Bakkeren, J, Trijbels, F, Sengers, R

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