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The American Journal of Clinical Nutrition
|
June 30, 2018
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
François-Guillaume Debray, Katarina Damjanovic, Robin Rosset, et al.
Journal of Bone and Mineral Metabolism
|
June 28, 2018
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual
Camelia Voinea, Elena Gonzalez Rodriguez, Catherine Beigelman-Aubry, et al.
Diabetologia
|
May 29, 2019
Cellular circadian period length inversely correlates with HbA<sub>1c</sub> levels in individuals with type 2 diabetes
Flore Sinturel, Anne-Marie Makhlouf, Patrick Meyer, et al.
Annals of Clinical and Translational Neurology
|
June 19, 2019
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic <i>HARS</i> variant
Béryl Royer-Bertrand, Pinelopi Tsouni, Patrick Mullen, et al.
Molecular Genetics and Metabolism Reports
|
July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjects
Christel Tran, Licia Turolla, Diana Ballhausen, et al.
Molecular Genetics and Metabolism
|
July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
Sarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.
Metabolism: Clinical and Experimental
|
April 9, 2025
Leptin acutely increases hepatic triglyceride secretion in patients with lipodystrophy
Marianna Beghini, Matthäus Metz, Clemens Baumgartner, et al.
Molecular Genetics and Metabolism
|
January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Nicole Hammann, Dominic Lenz, Ivo Baric, et al.
Journal of Inherited Metabolic Disease
|
February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Martina Huemer, Daria Diodato, Diego Martinelli, et al.
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of 6
Search research articles
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Showing results (51-60 of 59) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 59 results.
The American Journal of Clinical Nutrition
|
June 30, 2018
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?
François-Guillaume Debray, Katarina Damjanovic, Robin Rosset, et al.
Journal of Bone and Mineral Metabolism
|
June 28, 2018
Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann-Pick type B and SQSTM1-associated Paget's disease in the same individual
Camelia Voinea, Elena Gonzalez Rodriguez, Catherine Beigelman-Aubry, et al.
Diabetologia
|
May 29, 2019
Cellular circadian period length inversely correlates with HbA<sub>1c</sub> levels in individuals with type 2 diabetes
Flore Sinturel, Anne-Marie Makhlouf, Patrick Meyer, et al.
Annals of Clinical and Translational Neurology
|
June 19, 2019
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic <i>HARS</i> variant
Béryl Royer-Bertrand, Pinelopi Tsouni, Patrick Mullen, et al.
Molecular Genetics and Metabolism Reports
|
July 14, 2021
The fate of orally administered sialic acid: First insights from patients with <i>N</i>-acetylneuraminic acid synthase deficiency and control subjects
Christel Tran, Licia Turolla, Diana Ballhausen, et al.
Molecular Genetics and Metabolism
|
July 11, 2017
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
Sarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, et al.
Metabolism: Clinical and Experimental
|
April 9, 2025
Leptin acutely increases hepatic triglyceride secretion in patients with lipodystrophy
Marianna Beghini, Matthäus Metz, Clemens Baumgartner, et al.
Molecular Genetics and Metabolism
|
January 20, 2024
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Nicole Hammann, Dominic Lenz, Ivo Baric, et al.
Journal of Inherited Metabolic Disease
|
February 19, 2019
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Martina Huemer, Daria Diodato, Diego Martinelli, et al.
Page
of 6