Detalhe da pesquisa
1.
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Mol Genet Metab
; 142(1): 108455, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531184
2.
A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
J Inherit Metab Dis
; 46(6): 1159-1169, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37747296
3.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
4.
A new D-galactose treatment monitoring index for PGM1-CDG.
J Inherit Metab Dis
; 44(5): 1263-1271, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043239
5.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
; 22(6): 1108-1118, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32089546
6.
Laboratory monitoring of patients with hereditary tyrosinemia type I.
Mol Genet Metab
; 130(4): 247-254, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32546364
7.
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Mol Genet Metab
; 129(2): 106-110, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31753749
8.
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Genet Med
; 20(8): 840-846, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095812
9.
Precision newborn screening for lysosomal disorders.
Genet Med
; 20(8): 847-854, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120458
10.
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
Clin Chem
; 64(12): 1753-1761, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30352867
11.
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
Hum Mutat
; 37(10): 1097-105, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27397503
12.
Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Genet Med
; 18(2): 162-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25856670
13.
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.
Clin Chem
; 62(9): 1248-54, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27440509
14.
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
Mol Genet Metab
; 114(1): 46-50, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25481105
15.
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.
J Inherit Metab Dis
; 38(5): 923-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762404
16.
Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated?
Paediatr Anaesth
; 25(8): 807-817, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25943188
17.
Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Mol Genet Metab
; 128(1-2): 113-121, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31395333
18.
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.
Clin Chem
; 59(10): 1461-9, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23838345
19.
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.
Mol Genet Metab
; 110(1-2): 176-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23628460
20.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Genet Med
; 14(7): 648-55, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22766634