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The Journal of Pediatrics
|
October 20, 2022
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France
Antoine Gardin, Charlotte Mussini, Bénédicte Héron, et al.
Bioscience Reports
|
July 17, 2015
High homocysteine induces betaine depletion
Apolline Imbard, Jean-François Benoist, Ruben Esse, et al.
Molecular Genetics and Metabolism
|
May 11, 2021
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
Charles-Joris Roux, Giulia Barcia, Manuel Schiff, et al.
JIMD Reports
|
April 22, 2026
Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy
Chloé de Puyraimond, Samia Pichard, Muriel Girard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 13, 2017
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
Oriane Mercati, Samia Pichard, Marie Ouachée, et al.
American Journal of Medical Genetics. Part A
|
April 26, 2017
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly
Antoine Poli, Yoann Vial, Damien Haye, et al.
Molecular Genetics and Metabolism
|
September 24, 2021
Development and characterization of a mouse model for Acad9 deficiency
Andrew Sinsheimer, Al-Walid Mohsen, Kailyn Bloom, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Citrulline in the management of patients with urea cycle disorders
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, et al.
Molecular Genetics and Metabolism
|
May 21, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
David Cassiman, Seymour Packman, Bruno Bembi, et al.
Molecular Genetics and Metabolism
|
August 3, 2012
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Amina Boina Abdallah, Hélène Ogier de Baulny, Renata Kozyraki, et al.
Page
of 16
Search research articles
Search
Showing results (51-60 of 159) with videos related to
Sort By:
Page
of 16
The Journal of Pediatrics
|
October 20, 2022
A Retrospective Multicentric Study of 34 Patients with Niemann-Pick Type C Disease and Early Liver Involvement in France
Antoine Gardin, Charlotte Mussini, Bénédicte Héron, et al.
Bioscience Reports
|
July 17, 2015
High homocysteine induces betaine depletion
Apolline Imbard, Jean-François Benoist, Ruben Esse, et al.
Molecular Genetics and Metabolism
|
May 11, 2021
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
Charles-Joris Roux, Giulia Barcia, Manuel Schiff, et al.
JIMD Reports
|
April 22, 2026
Should PNPO Deficiency Be Treated In Utero? Clinical Findings From Prenatal Pyridoxine Therapy
Chloé de Puyraimond, Samia Pichard, Muriel Girard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 13, 2017
Limited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
Oriane Mercati, Samia Pichard, Marie Ouachée, et al.
American Journal of Medical Genetics. Part A
|
April 26, 2017
Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly
Antoine Poli, Yoann Vial, Damien Haye, et al.
Molecular Genetics and Metabolism
|
September 24, 2021
Development and characterization of a mouse model for Acad9 deficiency
Andrew Sinsheimer, Al-Walid Mohsen, Kailyn Bloom, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2023
Citrulline in the management of patients with urea cycle disorders
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, et al.
Molecular Genetics and Metabolism
|
May 21, 2016
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
David Cassiman, Seymour Packman, Bruno Bembi, et al.
Molecular Genetics and Metabolism
|
August 3, 2012
How can cobalamin injections be spaced in long-term therapy for inborn errors of vitamin B(12) absorption?
Amina Boina Abdallah, Hélène Ogier de Baulny, Renata Kozyraki, et al.
Page
of 16