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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.
Journal of Inherited Metabolic Disease
|
May 5, 2018
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Allan M Lund, Line Borgwardt, Federica Cattaneo, et al.
Molecular Genetics and Metabolism
|
July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
Nathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Plos One
|
June 8, 2023
Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, et al.
Orphanet Journal of Rare Diseases
|
November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2023
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Karolina M Stepien, Janneke G Langendonk, Myriam Dao, et al.
Journal of Inherited Metabolic Disease
|
October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Ulrike Mütze, Florian Gleich, Ivo Barić, et al.
Pediatric Research
|
April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
Stefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
Human Molecular Genetics
|
October 3, 2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
Laura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, et al.
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Search research articles
Search
Showing results (61-70 of 78) with videos related to
Sort By:
Page
of 8
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.
Journal of Inherited Metabolic Disease
|
May 5, 2018
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
Allan M Lund, Line Borgwardt, Federica Cattaneo, et al.
Molecular Genetics and Metabolism
|
July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
Nathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Plos One
|
June 8, 2023
Correction: Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience
Grigoris Effraimidis, Åse Krogh Rasmussen, Morten Dunoe, et al.
Orphanet Journal of Rare Diseases
|
November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Maurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2023
The management and clinical outcomes of pregnancies in women with urea cycle disorders: A review of the literature and results of an international survey
Karolina M Stepien, Janneke G Langendonk, Myriam Dao, et al.
Journal of Inherited Metabolic Disease
|
October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Ulrike Mütze, Florian Gleich, Ivo Barić, et al.
Pediatric Research
|
April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
Stefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.
Journal of Inherited Metabolic Disease
|
January 19, 2026
Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey
Sarah C Grünert, Mirjam Langeveld, Lisa Rudolph, et al.
Human Molecular Genetics
|
October 3, 2022
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
Laura Arribas-Carreira, Cristina Dallabona, Michael A Swanson, et al.
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of 8