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Annals of Neurology
|
April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1
Nikolas Boy, Katharina Mengler, Eva Thimm, et al.
Orphanet Journal of Rare Diseases
|
May 5, 2019
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study
Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Ulrike Mütze, Lucy Henze, Julian Schröter, et al.
Scientific Reports
|
September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
E M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
Scientific Reports
|
October 13, 2021
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
E M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
Biochimica Et Biophysica Acta
|
April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
André B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Pediatrics
|
July 3, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
Katharina Mengler, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
Bianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.
Journal of Medical Genetics
|
April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Ulrike Mütze, Lucy Henze, Florian Gleich, et al.
Page
of 39
Search research articles
Search
Showing results (321-330 of 381) with videos related to
Sort By:
Page
of 39
Annals of Neurology
|
April 18, 2018
Newborn screening: A disease-changing intervention for glutaric aciduria type 1
Nikolas Boy, Katharina Mengler, Eva Thimm, et al.
Orphanet Journal of Rare Diseases
|
May 5, 2019
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study
Afshin Saffari, Ines Brösse, Adelheid Wiemer-Kruel, et al.
Journal of Inherited Metabolic Disease
|
July 10, 2023
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Ulrike Mütze, Lucy Henze, Julian Schröter, et al.
Scientific Reports
|
September 30, 2021
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
E M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
Scientific Reports
|
October 13, 2021
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
E M Charlotte Märtner, Eva Thimm, Philipp Guder, et al.
Biochimica Et Biophysica Acta
|
April 6, 2010
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
André B P van Kuilenburg, Doreen Dobritzsch, Judith Meijer, et al.
Pediatrics
|
July 3, 2024
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening
Katharina Mengler, Sven F Garbade, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
Bianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.
Journal of Medical Genetics
|
April 14, 2012
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing
Tobias B Haack, Birgit Haberberger, Eva-Maria Frisch, et al.
Journal of Inherited Metabolic Disease
|
January 26, 2021
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Ulrike Mütze, Lucy Henze, Florian Gleich, et al.
Page
of 39