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Journal of Inherited Metabolic Disease|May 5, 2018
Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosisAllan M Lund, Line Borgwardt, Federica Cattaneo, et al.
Molecular Genetics and Metabolism|July 18, 2024
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus studyNathalie Guffon, Barbara K Burton, Can Ficicioglu, et al.
Orphanet Journal of Rare Diseases|January 20, 2019
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedureGé-Ann Kuiper, Eveline J Langereis, Sandra Breyer, et al.
The Journal of Pediatrics|October 20, 2022
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis ApproachAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases|April 1, 2016
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational studyVassili Valayannopoulos, Julien Baruteau, Maria Bueno Delgado, et al.
The Journal of Pediatrics|March 9, 2020
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted DietAline Cano, Noemie Resseguier, Abdoulaye Ouattara, et al.
The Journal of Pediatrics|November 17, 2021
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted DietAbdoulaye Ouattara, Noemie Resseguier, Aline Cano, et al.
Orphanet Journal of Rare Diseases|November 9, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare diseaseMaurizio Scarpa, Zsuzsanna Almássy, Michael Beck, et al.
Journal of Inherited Metabolic Disease|April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, et al.
American Journal of Human Genetics|February 3, 2016
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationJos C Jansen, Sebahattin Cirak, Monique van Scherpenzeel, et al.
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