Detalhe da pesquisa
1.
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
J Inherit Metab Dis;
44(4): 857-870, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33496032
2.
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Ann Nutr Metab;
76(4): 268-276, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32683363
3.
Homozygous familial hypercholesterolemia with severe involvement of the aortic valve-A sibling-controlled case study on the efficacy of lipoprotein apheresis.
J Clin Apher;
35(3): 163-171, 2020 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32163632
4.
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation.
Hum Mutat;
36(1): 87-97, 2015 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25323976
5.
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Redox Biol;
58: 102517, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36306676
6.
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome Med;
14(1): 38, 2022 04 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35379322
7.
Placental 11beta-HSD2 gene expression at birth is inversely correlated with growth velocity in the first year of life after intrauterine growth restriction.
Pediatr Res;
65(6): 647-53, 2009 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19218882
8.
Neonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and Treatment.
Front Pediatr;
3: 43, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26137452
9.
Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?
Mol Genet Metab Rep;
5: 36-41, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28649540
10.
Interaction of selenium compounds with zinc finger proteins involved in DNA repair.
Eur J Biochem;
271(15): 3190-9, 2004 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15265038