Detalhe da pesquisa
1.
Should we depend on reference intervals from manufacturer package inserts? Comparing TSH and FT4 reference intervals from four manufacturers with results from modern indirect methods and the direct method.
Clin Chem Lab Med
; 62(7): 1352-1361, 2024 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38205847
2.
Jejunal Casein Feeding Is Followed by More Rapid Protein Digestion and Amino Acid Absorption When Compared with Gastric Feeding in Healthy Young Men.
J Nutr
; 145(9): 2033-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26224751
3.
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
Hum Mutat
; 32(1): 59-69, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21031596
4.
Jejunal feeding is followed by a greater rise in plasma cholecystokinin, peptide YY, glucagon-like peptide 1, and glucagon-like peptide 2 concentrations compared with gastric feeding in vivo in humans: a randomized trial.
Am J Clin Nutr
; 103(2): 435-43, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26762368
5.
Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
Hum Mutat
; 24(2): 130-9, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15241794
6.
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder.
Eur J Hum Genet
; 12(2): 115-20, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14571262
7.
PEX1 deficiency presenting as Leber congenital amaurosis.
Pediatr Neurol
; 31(2): 146-9, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15301838
8.
Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.
Adv Exp Med Biol
; 544: 107-11, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14713221
9.
Biochemical markers predicting survival in peroxisome biogenesis disorders.
Adv Exp Med Biol
; 544: 67-8, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14713214
10.
Peroxisome mosaics.
Adv Exp Med Biol
; 544: 97-106, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-14713220
11.
Laboratory evaluation of a novel capillary blood sampling device for measuring eight clinical chemistry parameters and HbA1c.
Clin Chim Acta
; 401(1-2): 152-7, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19138681
12.
Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.
Pediatr Res
; 55(3): 431-6, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14630978
13.
Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
Am J Med Genet A
; 126A(4): 333-8, 2004 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15098231
14.
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents.
Am J Hum Genet
; 70(4): 1062-8, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11873320