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.
Progressive brain atrophy and severe neurodevelopmental phenotype in siblings with biallelic COASY variants.
Am J Med Genet A
; 191(3): 842-845, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36495139
3.
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
4.
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
5.
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
6.
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(4): 686-697, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31822849
7.
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
8.
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Mol Genet Metab
; 131(3): 316-324, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33127324
9.
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
10.
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
11.
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
12.
Precision newborn screening for lysosomal disorders.
Genet Med
; 20(8): 847-854, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120458
13.
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
14.
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
Mol Genet Metab
; 123(4): 428-432, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510902
15.
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 19(2): 256-263, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28055022
16.
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
17.
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
18.
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
19.
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Clin Chem
; 61(5): 760-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759465
20.
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