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Molecular Genetics and Metabolism Reports
|
March 4, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review
Isis Atallah, Diego San Millán, Wicki Benoît, et al.
BMC Endocrine Disorders
|
August 22, 2021
Elevated lactate in Mauriac syndrome: still a mystery
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
BMC Endocrine Disorders
|
October 1, 2021
Correction to: Elevated lactate in Mauriac syndrome: still a mystery
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
Genes
|
June 2, 2021
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges
Jean-Marc Good, Isis Atallah, Mayte Castro Jimenez, et al.
Molecular Genetics and Metabolism
|
April 7, 2023
Biotinidase deficiency: What have we learned in forty years?
Aurel T Tankeu, Geraldine Van Winckel, Jolanda Elmers, et al.
The American Journal of Clinical Nutrition
|
May 1, 2009
Fructose overconsumption causes dyslipidemia and ectopic lipid deposition in healthy subjects with and without a family history of type 2 diabetes
Kim-Anne Lê, Michael Ith, Roland Kreis, et al.
Frontiers in Neurology
|
November 16, 2020
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy
Géraldine Van Winckel, Diana Ballhausen, Barry Wolf, et al.
Revue Medicale Suisse
|
March 23, 2023
[Is ketogenic diet effective against cancer ?]
Aurel T Tankeu, Mohammed Barigou, Rosette Pedro, et al.
Clinical Biochemistry
|
March 31, 2015
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases
Glynis Klinke, Marianne Rohrbach, Roberto Giugliani, et al.
American Heart Journal Plus : Cardiology Research and Practice
|
November 10, 2025
Reduced native T<sub>1</sub> on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B
Betim Redzepi, Panagiotis Antiochos, Christel Tran, et al.
Page
of 6
Search research articles
Search
Showing results (31-40 of 59) with videos related to
Sort By:
Page
of 6
Molecular Genetics and Metabolism Reports
|
March 4, 2021
Spinal cerebrotendinous xanthomatosis: A case report and literature review
Isis Atallah, Diego San Millán, Wicki Benoît, et al.
BMC Endocrine Disorders
|
August 22, 2021
Elevated lactate in Mauriac syndrome: still a mystery
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
BMC Endocrine Disorders
|
October 1, 2021
Correction to: Elevated lactate in Mauriac syndrome: still a mystery
Brice Touilloux, Henri Lu, Belinda Campos-Xavier, et al.
Genes
|
June 2, 2021
NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges
Jean-Marc Good, Isis Atallah, Mayte Castro Jimenez, et al.
Molecular Genetics and Metabolism
|
April 7, 2023
Biotinidase deficiency: What have we learned in forty years?
Aurel T Tankeu, Geraldine Van Winckel, Jolanda Elmers, et al.
The American Journal of Clinical Nutrition
|
May 1, 2009
Fructose overconsumption causes dyslipidemia and ectopic lipid deposition in healthy subjects with and without a family history of type 2 diabetes
Kim-Anne Lê, Michael Ith, Roland Kreis, et al.
Frontiers in Neurology
|
November 16, 2020
Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy
Géraldine Van Winckel, Diana Ballhausen, Barry Wolf, et al.
Revue Medicale Suisse
|
March 23, 2023
[Is ketogenic diet effective against cancer ?]
Aurel T Tankeu, Mohammed Barigou, Rosette Pedro, et al.
Clinical Biochemistry
|
March 31, 2015
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases
Glynis Klinke, Marianne Rohrbach, Roberto Giugliani, et al.
American Heart Journal Plus : Cardiology Research and Practice
|
November 10, 2025
Reduced native T<sub>1</sub> on cardiac magnetic resonance imaging as a novel marker of myocardial involvement in Niemann-Pick disease type B
Betim Redzepi, Panagiotis Antiochos, Christel Tran, et al.
Page
of 6