Detalhe da pesquisa
1.
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Genet Med
; 26(2): 101027, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37955240
2.
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Mol Genet Metab
; 142(2): 108472, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703411
3.
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Am J Med Genet A
; 194(4): e63498, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129970
4.
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Mol Genet Metab
; 140(3): 107688, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647829
5.
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Am J Hum Genet
; 104(5): 835-846, 2019 05 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30982613
6.
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Am J Med Genet A
; 188(10): 2932-2940, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861185
7.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681750
8.
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
J Inherit Metab Dis
; 43(4): 671-693, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32266963
9.
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Genet Med
; 21(5): 1181-1188, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293989
10.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
J Inherit Metab Dis
; 42(1): 147-158, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740741
11.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis
; 42(1): 5-28, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740725
12.
Renal involvement in PMM2-CDG, a mini-review.
Mol Genet Metab
; 123(3): 292-296, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29229467
13.
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Am J Med Genet A
; 176(12): 2850-2857, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345601
14.
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Am J Med Genet A
; 173(4): 1009-1016, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328124
15.
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).
JIMD Rep
; 64(2): 123-128, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873091
16.
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG).
Transl Res
; 257: 1-14, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709920
17.
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1.
Genes (Basel)
; 13(12)2022 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553519
18.
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.
Eur J Med Genet
; 65(11): 104602, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049607
19.
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
Clin Rheumatol
; 39(11): 3511-3515, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32506314
20.
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
J Clin Med
; 9(7)2020 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32635232