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Neuromuscular Disorders : NMD
|
July 14, 2020
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency
Giulia Barcia, Sonia Khirani, Alessandro Amaddeo, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2019
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
Alessandra Pennisi, Bruno Maranda, Jean-François Benoist, et al.
The Lancet. Diabetes & Endocrinology
|
May 23, 2021
Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
Ute Spiekerkoetter, Maria L Couce, Anibh M Das, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2016
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, et al.
Pediatric Research
|
November 14, 2018
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient
Sandrine Vuillaumier-Barrot, Manuel Schiff, Francesca Mattioli, et al.
Orphanet Journal of Rare Diseases
|
October 31, 2019
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, et al.
JIMD Reports
|
February 28, 2016
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants
Juliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, et al.
Kidney International Reports
|
December 19, 2024
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN
Aude Servais, Miriam Zacchia, Laurène Dehoux, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Neuropediatrics
|
December 22, 2025
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate
Marion Brands, Chloe de Puyraimond, Sidney M Gospe, et al.
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Search research articles
Search
Showing results (61-70 of 159) with videos related to
Sort By:
Page
of 16
Neuromuscular Disorders : NMD
|
July 14, 2020
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency
Giulia Barcia, Sonia Khirani, Alessandro Amaddeo, et al.
Journal of Inherited Metabolic Disease
|
December 10, 2019
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
Alessandra Pennisi, Bruno Maranda, Jean-François Benoist, et al.
The Lancet. Diabetes & Endocrinology
|
May 23, 2021
Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study
Ute Spiekerkoetter, Maria L Couce, Anibh M Das, et al.
Orphanet Journal of Rare Diseases
|
September 25, 2016
Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective study
Marie-Caroline Husson, Manuel Schiff, Alain Fouilhoux, et al.
Pediatric Research
|
November 14, 2018
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient
Sandrine Vuillaumier-Barrot, Manuel Schiff, Francesca Mattioli, et al.
Orphanet Journal of Rare Diseases
|
October 31, 2019
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Alessia Catania, Arcangela Iuso, Juliette Bouchereau, et al.
JIMD Reports
|
February 28, 2016
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants
Juliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, et al.
Kidney International Reports
|
December 19, 2024
Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN
Aude Servais, Miriam Zacchia, Laurène Dehoux, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2022
Very long-term outcomes in 23 patients with cblA type methylmalonic acidemia
Cecilia Marelli, Alain Fouilhoux, Jean-Francois Benoist, et al.
Neuropediatrics
|
December 22, 2025
Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate
Marion Brands, Chloe de Puyraimond, Sidney M Gospe, et al.
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of 16