Nenad Blau
Heidelberg, BW, Germany
Last Updated: 09/26/2026
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Found 121 publications
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.
Journal: Journal of inherited metabolic disease
Published: July 01, 2026
Clinical and biochemical footprints of inherited disorders of autophagy.
Journal: Molecular genetics and metabolism
Published: June 30, 2026
Sapropterin (BH4) challenge in phenylketonuria: Responder or non-responder?
Journal: Molecular genetics and metabolism
Published: June 26, 2026
Clinical and biochemical footprints of inherited cofactor disorders.
Journal: Molecular genetics and metabolism
Published: March 14, 2026
Sepiapterin: From sapropterin to next-generation therapy.
Journal: Molecular genetics and metabolism
Published: February 06, 2026
Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness.
Journal: Journal of inherited metabolic disease
Published: February 02, 2026
Clinical and biochemical footprints of inherited metabolic disorders: XIX. Hypoglycemia.
Journal: Molecular genetics and metabolism
Published: January 26, 2026
Genotype-phenotype relationships in phenylalanine hydroxylase deficiency: Functional annotation-enhanced analysis of 23,427 individuals.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 23, 2026
A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF.
Journal: Journal of inherited metabolic disease
Published: August 05, 2025
Clinical and biochemical footprints of primary mitochondrial disorders: proposed nosology.
Journal: Molecular genetics and metabolism
Published: June 05, 2025
A proposed nosology of inherited disorders of the extracellular matrix (ECM): Insights from the IEMbase and dyadic classification.
Journal: Molecular genetics and metabolism
Published: April 11, 2025
European guidelines on diagnosis and treatment of phenylketonuria: First revision.
Journal: Molecular genetics and metabolism
Published: January 05, 2025
Last Updated: 09/26/2026