Detalhe da pesquisa
1.
Long-term bone outcomes in Italian patients with Gaucher disease type 1 or type 3 treated with imiglucerase: A sub-study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
Blood Cells Mol Dis
; 98: 102705, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36327675
2.
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Hum Mol Genet
; 29(13): 2250-2260, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32533184
3.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
4.
Morquio B disease: From pathophysiology towards diagnosis.
Mol Genet Metab
; 132(3): 180-188, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558080
5.
Whole-body Computed Tomography Versus Dual Energy Xray Absorptiometry for Assessing Heterotopic Ossification in Fibrodysplasia Ossificans Progressiva.
Calcif Tissue Int
; 109(6): 615-625, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34331548
6.
Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).
Cerebellum
; 20(4): 596-605, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619652
7.
Exosomal MicroRNAs as Potential Biomarkers of Hepatic Injury and Kidney Disease in Glycogen Storage Disease Type Ia Patients.
Int J Mol Sci
; 23(1)2021 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008754
8.
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Clin Genet
; 97(1): 209-221, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31497877
9.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet
; 97(3): 396-406, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794058
10.
Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.
Mol Genet Metab
; 127(2): 147-157, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182398
11.
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
BMC Med Genet
; 20(1): 77, 2019 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31064326
12.
Allogeneic hematopoietic cell transplantation in Farber disease.
J Inherit Metab Dis
; 42(2): 286-294, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30815900
13.
Special considerations for clinical trials in fibrodysplasia ossificans progressiva (FOP).
Br J Clin Pharmacol
; 85(6): 1199-1207, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30281842
14.
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Neuropediatrics
; 50(5): 327-331, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31319423
15.
FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta.
J Med Genet
; 55(4): 278-284, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29358272
16.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30414226
17.
Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception.
PLoS Genet
; 12(12): e1006461, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27923065
18.
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.
N Engl J Med
; 373(11): 1010-20, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26352813
19.
The unusual association between Neuroblastoma and Gaucher Disease: Case report and review of the literature.
Blood Cells Mol Dis
; 68: 106-108, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27908537
20.
Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Acta Paediatr
; 107(8): 1402-1408, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797470