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Dorothea Haas

Showing results (41-50 of 63) with videos related to

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Orphanet Journal of Rare Diseases|February 29, 2020
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigationClaire Cannet, Andrea Pilotto, Júlio César Rocha, et al.
Journal of Child Neurology|December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish familyThomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
Nutrients|August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and HomocystinuriaElena Schnabel, Stefan Kölker, Florian Gleich, et al.
Molecular Genetics and Metabolism|February 15, 2025
Kidney involvement in glycogen storage disease type I: Current knowledge and key challengesAnke Schumann, Sven F Garbade, Skadi Beblo, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Journal of Inherited Metabolic Disease|June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaHeiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Journal of Inherited Metabolic Disease|October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and CareAnja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Journal of Inherited Metabolic Disease|February 2, 2019
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuriaAndrea Pilotto, Nenad Blau, Edytha Leks, et al.
Journal of Inherited Metabolic Disease|April 16, 2026
Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With PhenylketonuriaCorentin Gondrand, Anna T Reischl-Hajiabadi, Estelle Bonedeau, et al.
Investigative Radiology|February 2, 2026
MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation DisordersFabian Preisner, Sven F Garbade, Sarah C Grünert, et al.
Pageof 7

Showing results (41-50 of 63) with videos related to

Sort By:
Pageof 7
Orphanet Journal of Rare Diseases|February 29, 2020
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigationClaire Cannet, Andrea Pilotto, Júlio César Rocha, et al.
Journal of Child Neurology|December 29, 2012
Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish familyThomas Opladen, Friedrich Ebinger, Johannes Zschocke, et al.
Nutrients|August 12, 2023
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and HomocystinuriaElena Schnabel, Stefan Kölker, Florian Gleich, et al.
Molecular Genetics and Metabolism|February 15, 2025
Kidney involvement in glycogen storage disease type I: Current knowledge and key challengesAnke Schumann, Sven F Garbade, Skadi Beblo, et al.
European Journal of Human Genetics : EJHG|December 30, 2010
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathyPaulien Smits, Ann Saada, Saskia B Wortmann, et al.
Journal of Inherited Metabolic Disease|June 19, 2021
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaHeiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, et al.
Journal of Inherited Metabolic Disease|October 25, 2025
Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and CareAnja Lee, Yngve Thomas Bliksrud, Michela Onali, et al.
Journal of Inherited Metabolic Disease|February 2, 2019
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuriaAndrea Pilotto, Nenad Blau, Edytha Leks, et al.
Journal of Inherited Metabolic Disease|April 16, 2026
Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With PhenylketonuriaCorentin Gondrand, Anna T Reischl-Hajiabadi, Estelle Bonedeau, et al.
Investigative Radiology|February 2, 2026
MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation DisordersFabian Preisner, Sven F Garbade, Sarah C Grünert, et al.
Pageof 7