受强制性开放获取政策约束的文章 - Francois Eyskens了解详情
无法在其他位置公开访问的文章：1 篇
Identifying non–Duchenne muscular dystrophy–positive and false negative results in prior Duchenne muscular dystrophy newborn screening programs: a review
MA Gatheridge, JM Kwon, JM Mendell, G Scheuerbrandt, SJ Moat, ...
JAMA neurology 73 (1), 111-116, 2016
强制性开放获取政策： US National Institutes of Health
可在其他位置公开访问的文章：17 篇
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
L Welling, LE Bernstein, GT Berry, AB Burlina, F Eyskens, M Gautschi, ...
Journal of inherited metabolic disease 40, 171-176, 2017
强制性开放获取政策： Netherlands Organisation for Scientific Research
Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease
R Brouns, V Thijs, F Eyskens, M Van den Broeck, S Belachew, ...
Stroke 41 (5), 863-868, 2010
强制性开放获取政策： Research Foundation (Flanders)
The natural history of classic galactosemia: lessons from the GalNet registry
ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ...
Orphanet journal of rare diseases 14, 1-11, 2019
强制性开放获取政策： Health Research Board, Ireland, Netherlands Organisation for Scientific Research
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
N Ajit Bolar, AV Vanlander, C Wilbrecht, N Van der Aa, J Smet, ...
Human molecular genetics 22 (13), 2590-2602, 2013
强制性开放获取政策： Research Foundation (Flanders), German Research Foundation
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients
ABP van Kuilenburg, D Dobritzsch, J Meijer, R Meinsma, JF Benoist, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1802 (7-8 …, 2010
强制性开放获取政策： Swedish Research Council
Impact of diagnosis and therapy on cognitive function in urea cycle disorders
R Posset, AL Gropman, SCS Nagamani, LC Burrage, JK Bedoyan, ...
Annals of neurology 86 (1), 116-128, 2019
强制性开放获取政策： US National Institutes of Health, German Research Foundation
Phase I/II Trial of Liver–derived Mesenchymal Stem Cells in Pediatric Liver–based Metabolic Disorders: A Prospective, Open Label, Multicenter, Partially Randomized, Safety …
F Smets, D Dobbelaere, P McKiernan, C Dionisi-Vici, P Broué, ...
Transplantation 103 (9), 1903-1915, 2019
强制性开放获取政策： US National Institutes of Health
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
R Posset, SF Garbade, N Boy, AB Burlina, C Dionisi‐Vici, D Dobbelaere, ...
Journal of inherited metabolic disease 42 (1), 93-106, 2019
强制性开放获取政策： US National Institutes of Health, Government of Spain
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: on the basis of information from a European multicenter registry
F Molema, F Gleich, P Burgard, AT Van Der Ploeg, ML Summar, ...
Journal of inherited metabolic disease 42 (6), 1162-1175, 2019
强制性开放获取政策： US National Institutes of Health, National Institute of Health and Medical …
Dietary practices in propionic acidemia: a European survey
A Daly, A Pinto, S Evans, MF Almeida, M Assoun, A Belanger-Quintana, ...
Molecular genetics and metabolism reports 13, 83-89, 2017
强制性开放获取政策： Fundação para a Ciência e a Tecnologia, Portugal, Government of Spain
Dietary practices in isovaleric acidemia: a European survey
A Pinto, A Daly, S Evans, MF Almeida, M Assoun, A Belanger-Quintana, ...
Molecular genetics and metabolism reports 12, 16-22, 2017
强制性开放获取政策： Government of Spain
Undiagnosed phenylketonuria can exist everywhere: Results from an international survey
AMJ van Wegberg, F Trefz, M Gizewska, S Ahmed, L Chabraoui, MS Zaki, ...
The Journal of Pediatrics 239, 231-234. e2, 2021
强制性开放获取政策： Netherlands Organisation for Health Research and Development
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
S Scharre, R Posset, SF Garbade, F Gleich, MJ Seidl, AC Druck, JG Okun, ...
Annals of clinical and translational neurology 9 (11), 1715-1726, 2022
强制性开放获取政策： US National Institutes of Health, German Research Foundation
Dietary practices in methylmalonic acidaemia: a European survey
A Pinto, S Evans, A Daly, MF Almeida, M Assoun, A Belanger-Quintana, ...
Journal of Pediatric Endocrinology and Metabolism 33 (1), 147-155, 2020
强制性开放获取政策： Government of Spain
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome
Y van Bever, W Balemans, ELIM Duval, A Jespers, F Eyskens, W Van Hul, ...
American Journal of Medical Genetics Part A 143 (7), 763-767, 2007
强制性开放获取政策： Research Foundation (Flanders)
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway
K van Vliet, WG van Ginkel, R Jahja, A Daly, A MacDonald, S Santra, ...
Journal of Inherited Metabolic Disease 45 (5), 952-962, 2022
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders
R Posset, M Zielonka, F Gleich, SF Garbade, GF Hoffmann, S Kölker, ...
Journal of Inherited Metabolic Disease 46 (6), 1007-1016, 2023
强制性开放获取政策： US National Institutes of Health
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