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Annals of Clinical and Translational Neurology
|
August 31, 2019
Early prediction of phenotypic severity in Citrullinemia Type 1
Matthias Zielonka, Stefan Kölker, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
September 26, 2025
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis
Anna T Reischl-Hajiabadi, Sven F Garbade, Florian Gleich, et al.
Scientific Reports
|
March 19, 2026
Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders
Roland Posset, Friederike Epp, Sven F Garbade, et al.
Pediatrics
|
July 23, 2024
Vitamin B12 Deficiency Newborn Screening
Ulrike Mütze, Florian Gleich, Dorothea Haas, et al.
Human Mutation
|
January 17, 2020
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
Matthias Zielonka, Sven F Garbade, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
August 28, 2015
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Dagmar Jamiolkowski, Stefan Kölker, Esther M Glahn, et al.
Orphanet Journal of Rare Diseases
|
February 19, 2021
U-IMD: the first Unified European registry for inherited metabolic diseases
Thomas Opladen, Florian Gleich, Viktor Kozich, et al.
Molecular Genetics and Metabolism
|
March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
Femke Molema, Florian Gleich, Peter Burgard, et al.
Journal of Inherited Metabolic Disease
|
February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
Femke Molema, Florian Gleich, Peter Burgard, et al.
Journal of Inherited Metabolic Disease
|
March 17, 2025
Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment
Andrew A M Morris, Jitka Sokolová, Markéta Pavlíková, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 50) with videos related to
Sort By:
Page
of 5
Annals of Clinical and Translational Neurology
|
August 31, 2019
Early prediction of phenotypic severity in Citrullinemia Type 1
Matthias Zielonka, Stefan Kölker, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
September 26, 2025
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis
Anna T Reischl-Hajiabadi, Sven F Garbade, Florian Gleich, et al.
Scientific Reports
|
March 19, 2026
Impact of long-term nitrogen scavenger therapy on clinical outcome in individuals with urea cycle disorders
Roland Posset, Friederike Epp, Sven F Garbade, et al.
Pediatrics
|
July 23, 2024
Vitamin B12 Deficiency Newborn Screening
Ulrike Mütze, Florian Gleich, Dorothea Haas, et al.
Human Mutation
|
January 17, 2020
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
Matthias Zielonka, Sven F Garbade, Florian Gleich, et al.
Journal of Inherited Metabolic Disease
|
August 28, 2015
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Dagmar Jamiolkowski, Stefan Kölker, Esther M Glahn, et al.
Orphanet Journal of Rare Diseases
|
February 19, 2021
U-IMD: the first Unified European registry for inherited metabolic diseases
Thomas Opladen, Florian Gleich, Viktor Kozich, et al.
Molecular Genetics and Metabolism
|
March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
Femke Molema, Florian Gleich, Peter Burgard, et al.
Journal of Inherited Metabolic Disease
|
February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
Femke Molema, Florian Gleich, Peter Burgard, et al.
Journal of Inherited Metabolic Disease
|
March 17, 2025
Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment
Andrew A M Morris, Jitka Sokolová, Markéta Pavlíková, et al.
Page
of 5