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Molecular Genetics and Metabolism
|
September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency
Samira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
Nature Communications
|
March 22, 2025
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB
Donato D'Angelo, Víctor H Sánchez-Vázquez, Benjamín Cartes-Saavedra, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Saskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Medical Genetics
|
September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Neurology
|
September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
S B Wortmann, B H Kremer, A Graham, et al.
Blood
|
April 16, 2020
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
Saskia B Wortmann, Johan L K Van Hove, Terry G J Derks, et al.
Journal of Inherited Metabolic Disease
|
August 4, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo, et al.
Seizure
|
May 10, 2026
Uridine-responsive epileptic encephalopathy: Precision treatment across the age spectrum - a case series
Gurdeep Sekhon, Ana Perez Caballero, Christin Eltze, et al.
Journal of Inherited Metabolic Disease
|
January 25, 2018
The role of the clinician in the multi-omics era: are you ready?
Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
Page
of 21
Search research articles
Search
Showing results (111-120 of 205) with videos related to
Sort By:
Page
of 21
Molecular Genetics and Metabolism
|
September 14, 2011
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency
Samira Achouitar, Jennifer L Goldstein, Miski Mohamed, et al.
Nature Communications
|
March 22, 2025
Dependence of mitochondrial calcium signalling and dynamics on the disaggregase, CLPB
Donato D'Angelo, Víctor H Sánchez-Vázquez, Benjamín Cartes-Saavedra, et al.
American Journal of Human Genetics
|
February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Saskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Brain : a Journal of Neurology
|
November 19, 2008
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy
Saskia B Wortmann, Richard J T Rodenburg, An Jonckheere, et al.
Journal of Medical Genetics
|
September 17, 2017
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, et al.
Neurology
|
September 22, 2010
3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
S B Wortmann, B H Kremer, A Graham, et al.
Blood
|
April 16, 2020
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
Saskia B Wortmann, Johan L K Van Hove, Terry G J Derks, et al.
Journal of Inherited Metabolic Disease
|
August 4, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo, et al.
Seizure
|
May 10, 2026
Uridine-responsive epileptic encephalopathy: Precision treatment across the age spectrum - a case series
Gurdeep Sekhon, Ana Perez Caballero, Christin Eltze, et al.
Journal of Inherited Metabolic Disease
|
January 25, 2018
The role of the clinician in the multi-omics era: are you ready?
Clara D M van Karnebeek, Saskia B Wortmann, Maja Tarailo-Graovac, et al.
Page
of 21