Detalhe da pesquisa
1.
Characterization of central manifestations in patients with Niemann-Pick disease type C.
Genet Med
; 26(3): 101053, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38131307
2.
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.
Am J Med Genet A
; 191(5): 1325-1338, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36891680
3.
Congenital microgastria-limb reduction association: A case report and review of the literature.
Am J Med Genet A
; 182(12): 2976-2981, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32945605
4.
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.
Mol Genet Metab
; 113(1-2): 34-41, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25127543
5.
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Mol Genet Metab
; 112(2): 87-122, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667081
6.
Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population.
Fetal Pediatr Pathol
; 33(4): 226-33, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24833307
7.
Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.
J Inherit Metab Dis
; 36(5): 881-5, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23109060
8.
A case of Aicardi syndrome associated with duplication event of Xp22 including SHOX.
Ophthalmic Genet
; 44(6): 591-594, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36728747
9.
Dark Colored Urine in a 2-Year-Old Child.
Clin Chem
; 63(3): 786-788, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28242834
10.
Targeting neurological abnormalities in lysosomal storage diseases.
Trends Pharmacol Sci
; 43(6): 495-509, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34844772
11.
From Genotype to Phenotype-A Review of Kabuki Syndrome.
Genes (Basel)
; 13(10)2022 Sep 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292647
12.
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.
Genet Med
; 13(5): 457-84, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21502868
13.
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Clin Chem
; 62(11): 1430-1438, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27630153
14.
Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children.
J Pediatr
; 158(4): 602-606.e1, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21074173
15.
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.
J Pediatr
; 159(6): 1041-3.e2, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21920538
16.
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Mol Genet Metab
; 100(1): 42-5, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20083419
17.
Laboratory and genetic evaluation of Gaucher disease.
Wien Med Wochenschr
; 160(23-24): 600-4, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20714811
18.
Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Sci Rep
; 10(1): 9382, 2020 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32523032
19.
Author Correction: Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study.
Sci Rep
; 10(1): 11160, 2020 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32636473
20.
Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.
Clin Chem
; 55(1): 158-64, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18988750