Detalhe da pesquisa
1.
Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome.
Am J Med Genet A
; 179(7): 1366-1370, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31066191
2.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282788
3.
Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy.
Blood Cells Mol Dis
; 68: 211-217, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27816427
4.
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
JCI Insight
; 9(5)2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38300707
5.
Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.
Mol Ther Methods Clin Dev
; 30: 303-314, 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37601414
6.
Macrocephaly-capillary malformation: a report of three cases and review of the literature.
Pediatr Dermatol
; 26(3): 342-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19706101
7.
Infantile Onset Hypertrophic Cardiomyopathy Secondary to PRKAG2 Gene Mutation is Associated with Poor Prognosis.
J Pediatr Genet
; 7(4): 180-184, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430036
8.
Klinefelter Syndrome in Association with Tetralogy of Fallot and Congenital Diaphragmatic Hernia.
J Pediatr Genet
; 6(2): 115-117, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497001
9.
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
Orphanet J Rare Dis
; 10: 131, 2015 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26446585
10.
Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome.
Mov Disord Clin Pract
; 6(5): 409-410, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999982
11.
Patient management problem-preferred responses.
Continuum (Minneap Minn)
; 17(2 Neurogenetics): 407-16, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22810832
12.
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
Pediatr Res
; 62(6): 720-4, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17957157
13.
Patient management problem.
Continuum (Minneap Minn)
; 17(2 Neurogenetics): 402-6, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22810831