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Journal of Inherited Metabolic Disease
|
February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Patrick Forny, Friederike Hörster, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
American Journal of Human Genetics
|
January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Matthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
Journal of Inherited Metabolic Disease
|
March 29, 2026
Heritability of Long-Term Complications in Classic Galactosemia
Olivia S Garrett, Nicole H Smith, David J Cutler, et al.
Journal of Inherited Metabolic Disease
|
February 20, 2024
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
Denise Aldrian, Birgit Waldner, Georg F Vogel, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2014
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, et al.
Journal of Medical Genetics
|
August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
Miroslav P Milev, Claudio Graziano, Daniela Karall, et al.
Immunity
|
August 12, 2023
Loss of CD4<sup>+</sup> T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection
Erin E West, Nicolas S Merle, Marcin M Kamiński, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Corinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, et al.
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of 13
Search research articles
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Showing results (101-110 of 129) with videos related to
Sort By:
Page
of 13
Journal of Inherited Metabolic Disease
|
February 17, 2021
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Patrick Forny, Friederike Hörster, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
American Journal of Human Genetics
|
January 24, 2012
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Matthias Baumann, Cecilia Giunta, Birgit Krabichler, et al.
Journal of Inherited Metabolic Disease
|
March 29, 2026
Heritability of Long-Term Complications in Classic Galactosemia
Olivia S Garrett, Nicole H Smith, David J Cutler, et al.
Journal of Inherited Metabolic Disease
|
February 20, 2024
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency
Denise Aldrian, Birgit Waldner, Georg F Vogel, et al.
Orphanet Journal of Rare Diseases
|
September 11, 2014
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Matthias R Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, et al.
Journal of Medical Genetics
|
August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts
Miroslav P Milev, Claudio Graziano, Daniela Karall, et al.
Immunity
|
August 12, 2023
Loss of CD4<sup>+</sup> T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection
Erin E West, Nicolas S Merle, Marcin M Kamiński, et al.
Journal of Inherited Metabolic Disease
|
June 20, 2013
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Corinne M Rüegger, Martin Lindner, Diana Ballhausen, et al.
Journal of Inherited Metabolic Disease
|
April 15, 2015
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations
Martina Huemer, Daniela Karall, Anna Schossig, et al.
Page
of 13