Detalhe da pesquisa
1.
Hyperkinetic movement disorders in congenital disorders of glycosylation.
Eur J Neurol
; 26(9): 1226-1234, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132195
2.
Dandy-Walker malformation and variants: clinical features and associated anomalies in 28 affected children-a single retrospective study and a review of the literature.
Acta Neurol Belg
; 123(3): 903-909, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068432
3.
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.
Clin Genet
; 81(3): 224-33, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21517827
4.
Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.
Clin Genet
; 80(5): 452-8, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21070211
5.
Primary headache in childhood associated with psychiatric disturbances: an update.
Eur Rev Med Pharmacol Sci
; 24(12): 6893-6898, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633382
6.
A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.
Am J Med Genet A
; 149A(4): 722-5, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19253388
7.
Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype).
J Inherit Metab Dis
; 30(1): 107, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17186415
8.
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.
Mol Genet Metab Rep
; 12: 85-91, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28702361
9.
A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.
J Neurol
; 262(1): 154-64, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25355454
10.
In situ evidence of neoplastic cell phagocytosis by macrophages in papillary thyroid cancer.
J Clin Endocrinol Metab
; 82(5): 1615-20, 1997 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-9141559
11.
Negative/low expression of the Met/hepatocyte growth factor receptor identifies papillary thyroid carcinomas with high risk of distant metastases.
J Clin Endocrinol Metab
; 82(7): 2322-8, 1997 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-9215314
12.
Increased aggressiveness of thyroid cancer in patients with Graves' disease.
J Clin Endocrinol Metab
; 70(4): 830-5, 1990 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-2180978
13.
Autism and celiac disease: failure to validate the hypothesis that a link might exist.
Biol Psychiatry
; 42(1): 72-5, 1997 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-9193744
14.
Duplication of dystrophin gene and dissimilar clinical phenotype in the same family.
Neuromuscul Disord
; 5(6): 475-81, 1995 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-8580729
15.
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I.
Thromb Haemost
; 76(4): 502-4, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8902985
16.
Short stature, brachydactyly, nail dysplasia, and mental retardation: further observation of the Tonoki syndrome.
Am J Med Genet
; 80(4): 403-5, 1998 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-9856572
17.
Two new mild homozygous mutations in Gaucher disease patients: clinical signs and biochemical analyses.
Am J Med Genet
; 70(4): 437-43, 1997 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-9182788
18.
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease).
Am J Med Genet
; 63(1): 209-17, 1996 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-8723112
19.
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts.
Am J Med Genet
; 40(2): 133-7, 1991 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-1897564
20.
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I.
J Neurol
; 243(10): 700-5, 1996 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-8923302