Detalhe da pesquisa
1.
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Pediatr Int
; 66(1): e15726, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38299772
2.
Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.
Mol Genet Metab
; 138(3): 107528, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774919
3.
Plasma arginine levels in arginase deficiency in the "real world".
Mol Genet Metab Rep
; 38: 101042, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38221915
4.
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.
Mol Genet Metab
; 106(4): 439-41, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22658692
5.
The sensitivity and specificity of hyperglycosylated hCG (hhCG) levels to reliably diagnose clinical IVF pregnancies at 6 days following embryo transfer.
J Assist Reprod Genet
; 29(7): 609-14, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22527905
6.
Biochemical Diagnosis of Acute Hepatic Porphyria: Updated Expert Recommendations for Primary Care Physicians.
Am J Med Sci
; 362(2): 113-121, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33865828
7.
Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia.
Mol Genet Metab Rep
; 27: 100735, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33732618
8.
Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis.
Pediatr Res
; 67(2): 217-20, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19858779
9.
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
J Pediatr
; 155(6): 924-7, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19914430
10.
Inborn Errors of Metabolism and the Gastrointestinal Tract.
Gastroenterol Clin North Am
; 48(2): 183-198, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31046970
11.
Maternal glutaric acidemia, type I identified by newborn screening.
Mol Genet Metab
; 94(1): 132-4, 2008 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-18304851
12.
Laboratory diagnostic approaches in metabolic disorders.
Ann Transl Med
; 6(24): 470, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740401