Related Experiment Videos
Hyperphenylalaninaemia presumably due to carbinolamine dehydratase deficiency: loading tests with pterin derivatives
N Blau1, L Kierat, H C Curtius
1Department of Pediatrics, University of Zurich, Switzerland.
Journal of Inherited Metabolic Disease
|January 1, 1992
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
Molecular genetics and metabolism·2025
Homocarnosinosis: A historical update and findings in the SPG11 gene.
Acta neurologica Scandinavica·2018
The complete European guidelines on phenylketonuria: diagnosis and treatment.
Orphanet journal of rare diseases·2017
The challenges of managing coexistent disorders with phenylketonuria: 30 cases.
Molecular genetics and metabolism·2015
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
Acta neurologica Scandinavica. Supplementum·2014
Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.
Journal of inherited metabolic disease·2026
Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.
Journal of inherited metabolic disease·2026
Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.
Journal of inherited metabolic disease·2026
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.
Journal of inherited metabolic disease·2026
From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.
Journal of inherited metabolic disease·2026
Chiral cyclopropenimine-catalyzed enantioselective reactions: a mini-review.
Organic & biomolecular chemistry·2026
Phenolic Acids Inhibiting Lysinoalanine Cross-Linking in Soybean Protein Isolate via Covalent Site Blocking and Conformational Stabilization.
Journal of agricultural and food chemistry·2026
Discovery of 2-Cinnamoylbenzimidazoles as Novel Insect and Fungal Trehalose-6-Phosphate Phosphatase Inhibitors.
Journal of agricultural and food chemistry·2026
Iterative Enoyl Reduction by a FabV-Family Enzyme Expands the Chemical Landscape of Discrete Polyketide Synthases.
Journal of the American Chemical Society·2026
Membrane-Traversing Peptides: Mechanistic Landscapes, Assays, and Applications.
Chemical reviews·2026