Detalhe da pesquisa
1.
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays.
Genet Mol Biol
; 43(2): e20180334, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32478793
2.
Corrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4].
Mol Genet Metab Rep
; 34: 100945, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36873249
3.
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry.
Mol Genet Metab Rep
; 32: 100888, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35769135
4.
Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.
J Diabetes Metab Disord
; 16: 37, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28904929
5.
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.
Clin Chim Acta
; 372(1-2): 98-102, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16712827
6.
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods
J. inborn errors metab. screen
; 8: e20190011, 2020. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090989
7.
High-Risk Screening and Diagnosis of Inborn Errors of Metabolism: A Practical Guide for Laboratories
J. inborn errors metab. screen
; 6: e180010, 2018. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090965
8.
Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots
J. inborn errors metab. screen
; 5: e160048, 2017. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1090934
9.
Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.
Metab Brain Dis
; 17(1): 13-8, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11893004
10.
Enzymatic method for branched chain alpha-ketoacid determination: application to rapid analysis of urine and plasma samples from maple syrup urine disease patients
Acta physiol. pharmacol. ther. latinoam
; 49(2): 109-7, 1999. tab
Artigo
em Inglês
| LILACS | ID: lil-245926
11.
Deficiencia de la 2-metilacetoacetil-CoA tiolasa mitocondrial en Argentina / Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina
Medicina (B.Aires)
; 57(1): 52-8, ene.-feb. 1997. tab, graf
Artigo
em Espanhol
| LILACS | ID: lil-199731