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Georg F Hoffmann

Showing results (301-310 of 381) with videos related to

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Neurology|October 23, 2020
Phenylalanine Effects on Brain Function in Adult PhenylketonuriaAndrea Pilotto, Carl M Zipser, Edytha Leks, et al.
Orphanet Journal of Rare Diseases|October 21, 2021
<sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophyAfshin Saffari, Claire Cannet, Astrid Blaschek, et al.
Annals of Neurology|April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle DisordersRoland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendationsStefan Kölker, Ernst Christensen, James V Leonard, et al.
Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Aging|November 8, 2015
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibitionClemens Stockklausner, Simon Raffel, Julia Klermund, et al.
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.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.
Pageof 39

Showing results (301-310 of 381) with videos related to

Sort By:
Pageof 39
Neurology|October 23, 2020
Phenylalanine Effects on Brain Function in Adult PhenylketonuriaAndrea Pilotto, Carl M Zipser, Edytha Leks, et al.
Orphanet Journal of Rare Diseases|October 21, 2021
<sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophyAfshin Saffari, Claire Cannet, Astrid Blaschek, et al.
Annals of Neurology|April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle DisordersRoland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.
American Journal of Human Genetics|January 26, 2016
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyLaura S Kremer, Felix Distelmaier, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|March 25, 2011
Diagnosis and management of glutaric aciduria type I--revised recommendationsStefan Kölker, Ernst Christensen, James V Leonard, et al.
Orphanet Journal of Rare Diseases|January 20, 2017
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiencyTessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, et al.
Aging|November 8, 2015
A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-inhibitionClemens Stockklausner, Simon Raffel, Julia Klermund, et al.
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.
European Journal of Human Genetics : EJHG|January 19, 2018
Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencySanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, et al.
Journal of Inherited Metabolic Disease|June 8, 2026
Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and SwitzerlandSvenja Scharre, Annette L Hess, Florian Gleich, et al.
Pageof 39