受强制性开放获取政策约束的文章 - Agata Fiumara了解详情
无法在其他位置公开访问的文章：7 篇
DPM2‐CDG: A muscular dystrophy–dystroglycanopathy syndrome with severe epilepsy
R Barone, C Aiello, V Race, E Morava, F Foulquier, M Riemersma, ...
Annals of neurology 72 (4), 550-558, 2012
强制性开放获取政策： Research Foundation (Flanders)
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c. 121G> A (p. Gly41Ser) mutation
A Fiumara, R Barone, A Arena, M Filocamo, W Lissens, L Pavone, ...
Clinical genetics 80 (5), 452-458, 2011
强制性开放获取政策： Fondazione Telethon, Italy
CSF N‐glycan profile reveals sialylation deficiency in a patient with GM2 gangliosidosis presenting as childhood disintegrative disorder
R Barone, L Sturiale, A Fiumara, A Palmigiano, RO Bua, R Rizzo, ...
Autism Research 9 (4), 423-428, 2016
强制性开放获取政策： Government of Italy
ALG12-CDG: novel glycophenotype insights endorse the molecular defect
L Sturiale, S Bianca, D Garozzo, A Terracciano, E Agolini, A Messina, ...
Glycoconjugate Journal 36, 461-472, 2019
强制性开放获取政策： US National Institutes of Health
Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease
L Ferri, C Cavicchi, A Fiumara, R Parini, R Guerrini, A Morrone
Clinica Chimica Acta 452, 82-86, 2016
强制性开放获取政策： Government of Italy
Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis
F Maccari, F Galeotti, V Mantovani, L Zampini, L Padella, L Rigon, ...
Analytical biochemistry 557, 34-41, 2018
强制性开放获取政策： Government of Italy
Higher frequency of TMEM199-CDG in the southern mediterranean area is associated with c. 92G> C (p. Arg31Pro) mutation
A Fiumara, A Sapuppo, L Ferri, A Arena, A Prato, D Garozzo, L Sturiale, ...
European Journal of Medical Genetics 66 (3), 104709, 2023
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：19 篇
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome
SB Pierce, T Walsh, KM Chisholm, MK Lee, AM Thornton, A Fiumara, ...
The American Journal of Human Genetics 87 (2), 282-288, 2010
强制性开放获取政策： US National Institutes of Health
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease
B Tappino, R Biancheri, M Mort, S Regis, F Corsolini, A Rossi, ...
Human mutation 31 (12), E1894-E1914, 2010
强制性开放获取政策： Fondazione Telethon, Italy
Natural history of vanishing white matter
EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ...
Annals of neurology 84 (2), 274-288, 2018
强制性开放获取政策： US National Institutes of Health, Netherlands Organisation for Health …
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
I Ivanovski, O Djuric, SG Caraffi, D Santodirocco, M Pollazzon, S Rosato, ...
Genetics in Medicine 20 (9), 965-975, 2018
强制性开放获取政策： Fondazione Telethon, Italy
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C
S Fecarotta, A Romano, R Della Casa, E Del Giudice, D Bruschini, ...
Orphanet Journal of Rare Diseases 10, 1-11, 2015
强制性开放获取政策： Government of Italy
ALG1‐CDG: clinical and molecular characterization of 39 unreported patients
BG Ng, SA Shiryaev, D Rymen, EA Eklund, K Raymond, M Kircher, ...
Human mutation 37 (7), 653-660, 2016
强制性开放获取政策： US National Institutes of Health
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): diagnosis, follow‐up, and management
R Altassan, S Radenkovic, AC Edmondson, R Barone, S Brasil, ...
Journal of inherited metabolic disease 44 (1), 148-163, 2021
强制性开放获取政策： US National Institutes of Health
A subset of patients with autism spectrum disorders show a distinctive metabolic profile by dried blood spot analyses
R Barone, S Alaimo, M Messina, A Pulvirenti, J Bastin, ...
Frontiers in Psychiatry 9, 636, 2018
强制性开放获取政策： Government of Italy
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
F Cali, V Chiavetta, G Ruggeri, M Piccione, A Selicorni, D Palazzo, ...
European journal of medical genetics 60 (2), 93-99, 2017
强制性开放获取政策： Government of Italy
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content
R Tonin, A Caciotti, E Procopio, R Fischetto, F Deodato, MM Mancardi, ...
Scientific Reports 9 (1), 17684, 2019
强制性开放获取政策： European Commission
Adjunct diagnostic value of transcranial magnetic stimulation in mucopolysaccharidosis-related cervical myelopathy: A pilot study
M Cantone, G Lanza, A Le Pira, R Barone, G Pennisi, R Bella, M Pennisi, ...
Brain Sciences 9 (8), 200, 2019
强制性开放获取政策： Government of Italy
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study
S Sestito, G Rinninella, A Rampazzo, F D’Avanzo, L Zampini, L Santoro, ...
Orphanet Journal of Rare Diseases 17 (1), 251, 2022
强制性开放获取政策： Government of Italy
ALG8‐CDG: Molecular and phenotypic expansion suggests clinical management guidelines
D Albokhari, BG Ng, A Guberinic, EJP Daniel, NM Engelhardt, R Barone, ...
Journal of inherited metabolic disease 45 (5), 969-980, 2022
强制性开放获取政策： US National Institutes of Health
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