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Diabetes Care
|
March 12, 2008
Markedly blunted metabolic effects of fructose in healthy young female subjects compared with male subjects
Caroline Couchepin, Kim-Anne Lê, Murielle Bortolotti, et al.
Molecular Genetics and Metabolism Reports
|
April 19, 2021
Classical homocystinuria, is it safe to exercise?
Aurel T Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A
|
May 21, 2021
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel Bütschi, et al.
Journal of Clinical Lipidology
|
July 2, 2022
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome
Isis Atallah, Dominique McCormick, Jean-Marc Good, et al.
Revue Medicale Suisse
|
July 14, 2017
[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]
Christel Tran, Jacques Serratrice, Jean-Marc Nuoffer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 10, 2017
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study
Christel Tran, Jaina Patel, Hewson Stacy, et al.
The British Journal of Nutrition
|
June 15, 2010
Sex differences in lipid and glucose kinetics after ingestion of an acute oral fructose load
Christel Tran, Delphine Jacot-Descombes, Virgile Lecoultre, et al.
Annals of Clinical and Translational Neurology
|
April 28, 2022
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient
Markus Gschwind, Nuria Garcia Segarra, André Schaller, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2025
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases
Mirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, et al.
Orphanet Journal of Rare Diseases
|
June 3, 2026
Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team
Mirjam Langeveld, Sandra Sirrs, Robin Lachman, et al.
Page
of 6
Search research articles
Search
Showing results (41-50 of 59) with videos related to
Sort By:
Page
of 6
Diabetes Care
|
March 12, 2008
Markedly blunted metabolic effects of fructose in healthy young female subjects compared with male subjects
Caroline Couchepin, Kim-Anne Lê, Murielle Bortolotti, et al.
Molecular Genetics and Metabolism Reports
|
April 19, 2021
Classical homocystinuria, is it safe to exercise?
Aurel T Tankeu, Geraldine Van Winckel, Belinda Campos-Xavier, et al.
American Journal of Medical Genetics. Part A
|
May 21, 2021
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures
Beryl Royer-Bertrand, Katarina Cisarova, Florence Niel Bütschi, et al.
Journal of Clinical Lipidology
|
July 2, 2022
Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome
Isis Atallah, Dominique McCormick, Jean-Marc Good, et al.
Revue Medicale Suisse
|
July 14, 2017
[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]
Christel Tran, Jacques Serratrice, Jean-Marc Nuoffer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 10, 2017
Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study
Christel Tran, Jaina Patel, Hewson Stacy, et al.
The British Journal of Nutrition
|
June 15, 2010
Sex differences in lipid and glucose kinetics after ingestion of an acute oral fructose load
Christel Tran, Delphine Jacot-Descombes, Virgile Lecoultre, et al.
Annals of Clinical and Translational Neurology
|
April 28, 2022
Early-onset leukoencephalomyelopathy due to a biallelic NDUFV1 variant in a mid-forties patient
Markus Gschwind, Nuria Garcia Segarra, André Schaller, et al.
Journal of Inherited Metabolic Disease
|
July 3, 2025
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases
Mirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, et al.
Orphanet Journal of Rare Diseases
|
June 3, 2026
Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team
Mirjam Langeveld, Sandra Sirrs, Robin Lachman, et al.
Page
of 6