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Birgit Assmann

Showing results (31-40 of 44) with videos related to

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Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Journal of Inherited Metabolic Disease|March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiencyNatalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, et al.
JIMD Reports|April 22, 2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus RecommendationsClara D M van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Brain : a Journal of Neurology|October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
Journal of Inherited Metabolic Disease|November 18, 2016
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
Biochimica Et Biophysica Acta|April 25, 2012
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Human Molecular Genetics|September 24, 2004
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalitiesAndré B P van Kuilenburg, Rutger Meinsma, Eva Beke, et al.
Biochimica Et Biophysica Acta|April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patientsAndré B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Journal of Inherited Metabolic Disease|March 19, 2024
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiencyNatalia Alexandra Julia-Palacios, Oya Kuseyri Hübschmann, Mireia Olivella, et al.
JIMD Reports|April 22, 2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus RecommendationsClara D M van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, et al.
Orphanet Journal of Rare Diseases|May 28, 2020
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Brain : a Journal of Neurology|October 31, 2022
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15Afshin Saffari, Melanie Kellner, Catherine Jordan, et al.
Pageof 5