Search Results - "Penzien, Johann M."

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia by Bonafé, Luisa, Thöny, Beat, Penzien, Johann M., Czarnecki, Barbara, Blau, Nenad

“…Classic tetrahydrobiopterin (BH 4) deficiencies are characterized by hyperphenylalaninemia and deficiency of monoamine neurotransmitters. In this article, we…”
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Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy by Echenne, Bernard, Roubertie, Agathe, Assmann, Birgit, Lutz, Thomas, Penzien, Johann M., Thöny, Beat, Blau, Nenad, Hoffmann, Georg F.

“…Sepiapterin reductase deficiency has recently been recognized as a treatable, inborn error of pterin metabolism. This investigation is the first long-term…”
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Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency by Zorzi, Giovanna, Redweik, Udo, Trippe, Heike, Penzien, Johann M., Thöny, Beat, Blau, Nenad

“…Sepiapterin reductase (SR) deficiency was recently described in patients with a severe biogenic amine deficiency presenting without hyperphenylalaninemia and…”
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4G/5G promoter polymorphism in the plasminogen-activator-inhibitor-1 gene in children with systemic meningococcaemia by GEISHOFER, Gotho, BINDER, Alexander, ZENZ, Werner, MÜLLER, Martin, ZÖHRER, Bettina, RESCH, Bernhard, MÜLLER, Wilhelm, FABER, Jörg, FINN, Adam, ENDLER, Georg, MANNHALTER, Christine

“…Meningococcal disease may present as sepsis, meningitis or a combination of both. Impaired fibrinolysis and massive elevation of the plasminogen activator…”
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Cranial MRI changes may precede symptoms in Hallervorden-Spatz syndrome by Hayflick, Susan J., Penzien, Johann M., Michl, Wolfgang, Sharif, Uzma M., Rosman, N.Paul, Wheeler, Patricia G.

“…Two families are presented in which siblings of children affected with Hallervorden-Spatz syndrome exhibited characteristic cranial magnetic resonance imaging…”
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B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement by Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD

“…The clinical phenotype of congenital disorders of glycosylation is heterogeneous, mostly including a severe neurological involvement and multisystem disease…”
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Does migraine-related stroke occur in childhood? by Rossi, L N, Penzien, J M, Deonna, T, Goutières, F, Vassella, F

“…This report concerns seven children who had at least one episode of infarct, possibly during an attack of migraine. They fulfilled the following criteria:…”
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