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Georg F Hoffmann

Showing results (341-350 of 381) with videos related to

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Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.
Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Clinical Immunology|February 27, 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)Carsten Speckmann, Uta Nennstiel, Manfred Hönig, et al.
Pageof 39

Showing results (341-350 of 381) with videos related to

Sort By:
Pageof 39
Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.
Orphanet Journal of Rare Diseases|August 8, 2020
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficienciesThomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, et al.
Journal of Inherited Metabolic Disease|November 7, 2015
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic conceptsChristian Staufner, Tobias B Haack, Marlies G Köpke, et al.
Nature Communications|September 21, 2021
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic aminesOya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, et al.
American Journal of Human Genetics|June 16, 2015
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in InfancyTobias B Haack, Christian Staufner, Marlies G Köpke, et al.
Clinical Genetics|February 23, 2021
De novo variants in neurodevelopmental disorders-experiences from a tertiary care centerTheresa Brunet, Robert Jech, Melanie Brugger, et al.
American Journal of Human Genetics|August 23, 2016
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyEstelle Colin, Jens Daniel, Alban Ziegler, et al.
Brain : a Journal of Neurology|September 21, 2010
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismEva Morava, Ron A Wevers, Vincent Cantagrel, et al.
Journal of Inherited Metabolic Disease|July 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolismYılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu, et al.
Journal of Clinical Immunology|February 27, 2023
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)Carsten Speckmann, Uta Nennstiel, Manfred Hönig, et al.
Pageof 39