Detalles de la búsqueda
1.
microRNAs as biomarkers in Pompe disease.
Genet Med
; 21(3): 591-600, 2019 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29997386
2.
A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment.
Am J Med Genet A
; 176(5): 1253-1257, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29681086
3.
Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study.
Echocardiography
; 34(2): 240-249, 2017 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-28070903
4.
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
Am J Med Genet A
; 170(8): 2196-9, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27256967
5.
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Mol Ther
; 22(11): 2004-12, 2014 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25052852
6.
Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders.
Acta Paediatr
; 108(1): 171-172, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30216533
7.
The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat.
Am J Med Genet A
; 155A(3): 540-7, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21344635
8.
Primary Pyomyositis in Children is No More a Rare Condition: Presentation of 2 Clinical Cases.
Pediatr Infect Dis J
; 40(7): e276-e278, 2021 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33657602
9.
The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b.
J Pediatr
; 156(4): 663-70.e1, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20022338
10.
Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement.
Orphanet J Rare Dis
; 15(1): 99, 2020 04 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-32306986
11.
A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome.
J Ultrasound
; 21(3): 249-252, 2018 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-29502244
12.
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Orphanet J Rare Dis
; 13(1): 32, 2018 02 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29422078
13.
Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.
J Pediatr
; 150(3): 300-5, 305.e1, 2007 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-17307551
14.
Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.
J Child Neurol
; 22(5): 565-73, 2007 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-17690063
15.
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.
Eur J Med Genet
; 60(12): 655-657, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28867506
16.
[Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management]. / Il cardiologo e le mucopolisaccaridosi. Raccomandazioni del GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) su diagnosi, follow-up e management cardiologico.
G Ital Cardiol (Rome)
; 18(9): 638-649, 2017 Sep.
Artículo
en Italiano
| MEDLINE | ID: mdl-28845875
17.
Isovaleric acidemia.
J Pediatr Endocrinol Metab
; 24(5-6): 399, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21823546
18.
Vitamin E Improves Clinical Outcome of Patients Affected by Glycogen Storage Disease Type Ib.
JIMD Rep
; 25: 39-45, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26122627
19.
Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Orphanet J Rare Dis
; 10: 14, 2015 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-25757997
20.
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
Orphanet J Rare Dis
; 10: 22, 2015 Feb 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-25888393