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Pediatric Neurology
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May 29, 2012
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene
Anne Koy, Frank Pillekamp, Thomas Hoehn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 19, 2017
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia
Lara M Lange, Sinem Tunc, Stephanie Tennstedt, et al.
Journal of Lipid Research
|
February 3, 2004
Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency
Ertan Mayatepek, Jürgen G Okun, Thomas Meissner, et al.
Pediatric Neurology
|
November 1, 2006
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy
Bernard Echenne, Agathe Roubertie, Birgit Assmann, et al.
International Journal of Molecular Sciences
|
November 18, 2020
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of <i>ALDH5A1</i>
Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye
Christina Evers, Angelika Seitz, Birgit Assmann, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters
Nikolas Boy, Gisela Haege, Jana Heringer, et al.
Annals of Neurology
|
August 2, 2003
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
Georg F Hoffmann, Birgit Assmann, Christa Bräutigam, et al.
Annals of Neurology
|
October 30, 2010
Use of guidelines improves the neurological outcome in glutaric aciduria type I
Jana Heringer, S P Nikolas Boy, Regina Ensenauer, et al.
Brain : a Journal of Neurology
|
May 13, 2009
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
Inga Harting, Eva Neumaier-Probst, Angelika Seitz, et al.
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of 5
Search research articles
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Showing results (11-20 of 44) with videos related to
Sort By:
Page
of 5
Pediatric Neurology
|
May 29, 2012
Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene
Anne Koy, Frank Pillekamp, Thomas Hoehn, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
September 19, 2017
A novel, in-frame KMT2B deletion in a patient with apparently isolated, generalized dystonia
Lara M Lange, Sinem Tunc, Stephanie Tennstedt, et al.
Journal of Lipid Research
|
February 3, 2004
Synthesis and metabolism of leukotrienes in gamma-glutamyl transpeptidase deficiency
Ertan Mayatepek, Jürgen G Okun, Thomas Meissner, et al.
Pediatric Neurology
|
November 1, 2006
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy
Bernard Echenne, Agathe Roubertie, Birgit Assmann, et al.
International Journal of Molecular Sciences
|
November 18, 2020
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of <i>ALDH5A1</i>
Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, et al.
American Journal of Medical Genetics. Part A
|
May 11, 2017
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye
Christina Evers, Angelika Seitz, Birgit Assmann, et al.
Journal of Inherited Metabolic Disease
|
September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters
Nikolas Boy, Gisela Haege, Jana Heringer, et al.
Annals of Neurology
|
August 2, 2003
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
Georg F Hoffmann, Birgit Assmann, Christa Bräutigam, et al.
Annals of Neurology
|
October 30, 2010
Use of guidelines improves the neurological outcome in glutaric aciduria type I
Jana Heringer, S P Nikolas Boy, Regina Ensenauer, et al.
Brain : a Journal of Neurology
|
May 13, 2009
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
Inga Harting, Eva Neumaier-Probst, Angelika Seitz, et al.
Page
of 5