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The Journal of Nutrition
|
October 1, 2020
Inherited Disorders of Lysine Metabolism: A Review
Juliette Bouchereau, Manuel Schiff
Journal of Inherited Metabolic Disease
|
July 22, 2025
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback
Jean-Marie Saudubray, Manuel Schiff
Neuropediatrics
|
November 6, 2012
Treatment of inherited homocystinurias
Manuel Schiff, Henk J Blom
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
December 17, 2017
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria
Antje Banning, Manuel Schiff, Ritva Tikkanen
Biomedicines
|
August 27, 2021
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation
Elise Lebigot, Manuel Schiff, Marie-Pierre Golinelli-Cohen
Seminars in Fetal & Neonatal Medicine
|
May 25, 2011
Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects
Manuel Schiff, Hélène Ogier de Baulny, Anne Lombès
Molecular Genetics and Metabolism
|
March 10, 2012
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder
Hélène Ogier de Baulny, Manuel Schiff, Carlo Dionisi-Vici
Documenta Ophthalmologica. Advances in Ophthalmology
|
September 7, 2021
Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up
Florence Rigaudière, Hala Nasser, Eliane Delouvrier, et al.
BMC Nephrology
|
April 1, 2017
Antenatal nephromegaly and propionic acidemia: a case report
Ségolène Bernheim, Georges Deschênes, Manuel Schiff, et al.
Trends in Endocrinology and Metabolism: TEM
|
May 29, 2012
Therapies in inborn errors of oxidative metabolism
Manuel Schiff, Paule Bénit, Howard T Jacobs, et al.
Page
of 16
Search research articles
Search
Showing results (1-10 of 159) with videos related to
Sort By:
Page
of 16
The Journal of Nutrition
|
October 1, 2020
Inherited Disorders of Lysine Metabolism: A Review
Juliette Bouchereau, Manuel Schiff
Journal of Inherited Metabolic Disease
|
July 22, 2025
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback
Jean-Marie Saudubray, Manuel Schiff
Neuropediatrics
|
November 6, 2012
Treatment of inherited homocystinurias
Manuel Schiff, Henk J Blom
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|
December 17, 2017
Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria
Antje Banning, Manuel Schiff, Ritva Tikkanen
Biomedicines
|
August 27, 2021
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation
Elise Lebigot, Manuel Schiff, Marie-Pierre Golinelli-Cohen
Seminars in Fetal & Neonatal Medicine
|
May 25, 2011
Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects
Manuel Schiff, Hélène Ogier de Baulny, Anne Lombès
Molecular Genetics and Metabolism
|
March 10, 2012
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder
Hélène Ogier de Baulny, Manuel Schiff, Carlo Dionisi-Vici
Documenta Ophthalmologica. Advances in Ophthalmology
|
September 7, 2021
Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up
Florence Rigaudière, Hala Nasser, Eliane Delouvrier, et al.
BMC Nephrology
|
April 1, 2017
Antenatal nephromegaly and propionic acidemia: a case report
Ségolène Bernheim, Georges Deschênes, Manuel Schiff, et al.
Trends in Endocrinology and Metabolism: TEM
|
May 29, 2012
Therapies in inborn errors of oxidative metabolism
Manuel Schiff, Paule Bénit, Howard T Jacobs, et al.
Page
of 16