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Epileptic Disorders : International Epilepsy Journal with Videotape
|
May 26, 2007
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status
Andrea Berger, Christiane Schroeter, Adelheid Wiemer-Kruel, et al.
Gene
|
January 21, 2014
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF
Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
Journal of Inherited Metabolic Disease
|
September 13, 2014
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
Roland Posset, Silvana Opp, Eduard A Struys, et al.
Autophagy
|
November 24, 2021
Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases
Afshin Saffari, Julian Schröter, Sven F Garbade, et al.
European Journal of Pediatrics
|
March 16, 2022
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
Ulrike Mütze, Uta Nennstiel, Birgit Odenwald, et al.
Annals of Neurology
|
March 3, 2004
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency
Yuh Terng Chang, Radhakant Sharma, J Lawrence Marsh, et al.
Amino Acids
|
December 13, 2024
Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases
Katharina Küper, Gernot Poschet, Julia Rossmann, et al.
Pediatrics
|
February 4, 2003
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum
Viola Prietsch, Ertan Mayatepek, Hermann Krastel, et al.
The Journal of Biological Chemistry
|
February 16, 2002
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
Jürgen G Okun, Friederike Hörster, Lilla M Farkas, et al.
The Journal of Biological Chemistry
|
April 21, 2005
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A
Sven W Sauer, Jürgen G Okun, Marina A Schwab, et al.
Page
of 39
Search research articles
Search
Showing results (151-160 of 381) with videos related to
Sort By:
Page
of 39
Epileptic Disorders : International Epilepsy Journal with Videotape
|
May 26, 2007
Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status
Andrea Berger, Christiane Schroeter, Adelheid Wiemer-Kruel, et al.
Gene
|
January 21, 2014
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF
Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, et al.
Journal of Inherited Metabolic Disease
|
September 13, 2014
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I
Roland Posset, Silvana Opp, Eduard A Struys, et al.
Autophagy
|
November 24, 2021
Quantitative retrospective natural history modeling of <i>WDR45</i>-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases
Afshin Saffari, Julian Schröter, Sven F Garbade, et al.
European Journal of Pediatrics
|
March 16, 2022
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening
Ulrike Mütze, Uta Nennstiel, Birgit Odenwald, et al.
Annals of Neurology
|
March 3, 2004
Levodopa-responsive aromatic L-amino acid decarboxylase deficiency
Yuh Terng Chang, Radhakant Sharma, J Lawrence Marsh, et al.
Amino Acids
|
December 13, 2024
Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases
Katharina Küper, Gernot Poschet, Julia Rossmann, et al.
Pediatrics
|
February 4, 2003
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum
Viola Prietsch, Ertan Mayatepek, Hermann Krastel, et al.
The Journal of Biological Chemistry
|
February 16, 2002
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
Jürgen G Okun, Friederike Hörster, Lilla M Farkas, et al.
The Journal of Biological Chemistry
|
April 21, 2005
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A
Sven W Sauer, Jürgen G Okun, Marina A Schwab, et al.
Page
of 39