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
Inglês
| MEDLINE | ID: mdl-38531184
2.
εγ-Thalassemia, a New Hemoglobinopathy Category.
Clin Chem
; 69(7): 711-717, 2023 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37086467
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
Inglês
| MEDLINE | ID: mdl-37747296
4.
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Mol Genet Metab
; 134(1-2): 53-59, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33832819
5.
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
Inglês
| MEDLINE | ID: mdl-33044030
6.
A new D-galactose treatment monitoring index for PGM1-CDG.
J Inherit Metab Dis
; 44(5): 1263-1271, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34043239
7.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
; 22(6): 1108-1118, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32089546
8.
Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.
Mol Genet Metab
; 131(1-2): 90-97, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32928639
9.
Rare Saposin A deficiency: Novel variant and psychosine analysis.
Mol Genet Metab
; 129(2): 161-164, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31439510
10.
Laboratory monitoring of patients with hereditary tyrosinemia type I.
Mol Genet Metab
; 130(4): 247-254, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32546364
11.
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
Inglês
| MEDLINE | ID: mdl-31753749
12.
It's time to reconsider the newborn screening RUSP prospective pilot study "N of 1" rule.
Mol Genet Metab
; 142(1): 108352, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38429125
13.
Higher dietary protein intake preserves lean body mass, lowers liver lipid deposition, and maintains metabolic control in participants with long-chain fatty acid oxidation disorders.
J Inherit Metab Dis
; 42(5): 857-869, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31295363
14.
Reduced active transcellular intestinal oxalate secretion contributes to the pathogenesis of obesity-associated hyperoxaluria.
Kidney Int
; 93(5): 1098-1107, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29395336
15.
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(12): 1499-1507, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30459394
16.
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Genet Med
; 20(8): 840-846, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29095812
17.
Precision newborn screening for lysosomal disorders.
Genet Med
; 20(8): 847-854, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29120458
18.
Identification of Decreased Butyrylcholinesterase in Sudden Infant Death Syndrome Is, at Best, a First Step Toward Preventive Screening.
Clin Chem
; 69(2): 116-117, 2023 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36327422
19.
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
Inglês
| MEDLINE | ID: mdl-30352867
20.
Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial.
J Inherit Metab Dis
; 40(6): 831-843, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28871440