Detalhe da pesquisa
1.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
Curr Issues Mol Biol
; 45(4): 2847-2860, 2023 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37185710
2.
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Mol Ther
; 22(11): 2004-12, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25052852
3.
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?
Mol Genet Metab
; 107(1-2): 104-10, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22704482
4.
The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.
Pediatr Blood Cancer
; 59(3): 580-2, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22183880
5.
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.
Front Cell Dev Biol
; 10: 793566, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35252175
6.
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
J Appl Physiol (1985)
; 131(6): 1762-1771, 2021 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34734785
7.
The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease.
Genet Med
; 12(4): 206-11, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20308911
8.
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.
Br J Haematol
; 147(5): 706-9, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-19775298
9.
Deletion of PAX9 and oligodontia: a third family and review of the literature.
Int J Paediatr Dent
; 18(6): 441-5, 2008 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-18445003
10.
Late-onset Pompe disease (LOPD): May axial myopathy influence respiratory dysfunction?
Pulmonology
; 27(6): 566-568, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34253492
11.
Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group.
Oncotarget
; 7(20): 28914-9, 2016 May 17.
Artigo
Inglês
| MEDLINE | ID: mdl-26980750
12.
Familial myelodysplastic syndromes, monosomy 7/trisomy 8, and mutator effects.
Cancer Genet Cytogenet
; 148(2): 155-8, 2004 Jan 15.
Artigo
Inglês
| MEDLINE | ID: mdl-14734230
13.
Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.
Int J Hematol
; 99(2): 208-12, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24338706
14.
Genotype-phenotype correlation in Pompe disease, a step forward.
Orphanet J Rare Dis
; 9: 102, 2014 Aug 08.
Artigo
Inglês
| MEDLINE | ID: mdl-25103075
15.
Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis.
Br J Haematol
; 132(6): 784-7, 2006 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-16487180
16.
Abnormal cell surface antigen expression in individuals with variant CD45 splicing and histiocytosis.
Pediatr Res
; 55(3): 478-84, 2004 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-14630980
17.
Ptosis as a feature of late-onset glycogenosis type II.
Neurology
; 69(1): 116; author reply 116, 2007 Jul 03.
Artigo
Inglês
| MEDLINE | ID: mdl-17606892