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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 8, 2025
Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion
Ulrike Mütze, Svenja Scharré, Elena Schnabel-Besson, et al.
Journal of Inherited Metabolic Disease
|
April 6, 2026
A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF
Stine Christ, Julia Rossmann, Sylvia Richter, et al.
Molecular Genetics and Metabolism
|
May 23, 2026
Clinical and biochemical footprints of inherited cofactor disorders
Ivano Di Meo, Carlos R Ferreira, Thomas Opladen, et al.
Children (Basel, Switzerland)
|
May 28, 2022
Unmet Needs of Parents of Children with Urea Cycle Disorders
Mara Scharping, Heiko Brennenstuhl, Sven F Garbade, et al.
Molecular Genetics and Metabolism
|
March 21, 2021
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Alberto Burlina, Antonella Giuliani, Giulia Polo, et al.
JIMD Reports
|
March 13, 2025
An atypical presentation in a child with propionic acidemia? Better think twice!
Tim Burkhardt, Katharine L Kastor, Stine Christ, et al.
Archives of Neurology
|
April 5, 2012
Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency
Norbert Brüggemann, Juliane Spiegler, Yorck Hellenbroich, 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.
Molecular Genetics and Metabolism
|
September 4, 2021
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
Carmen Longo, Riccardo Montioli, Giovanni Bisello, 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.
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Search research articles
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Showing results (31-40 of 95) with videos related to
Sort By:
Page
of 10
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
May 8, 2025
Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion
Ulrike Mütze, Svenja Scharré, Elena Schnabel-Besson, et al.
Journal of Inherited Metabolic Disease
|
April 6, 2026
A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF
Stine Christ, Julia Rossmann, Sylvia Richter, et al.
Molecular Genetics and Metabolism
|
May 23, 2026
Clinical and biochemical footprints of inherited cofactor disorders
Ivano Di Meo, Carlos R Ferreira, Thomas Opladen, et al.
Children (Basel, Switzerland)
|
May 28, 2022
Unmet Needs of Parents of Children with Urea Cycle Disorders
Mara Scharping, Heiko Brennenstuhl, Sven F Garbade, et al.
Molecular Genetics and Metabolism
|
March 21, 2021
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Alberto Burlina, Antonella Giuliani, Giulia Polo, et al.
JIMD Reports
|
March 13, 2025
An atypical presentation in a child with propionic acidemia? Better think twice!
Tim Burkhardt, Katharine L Kastor, Stine Christ, et al.
Archives of Neurology
|
April 5, 2012
Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency
Norbert Brüggemann, Juliane Spiegler, Yorck Hellenbroich, 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.
Molecular Genetics and Metabolism
|
September 4, 2021
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins
Carmen Longo, Riccardo Montioli, Giovanni Bisello, 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.
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