Detalhe da pesquisa
1.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Genet Med
; 26(4): 101039, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054409
2.
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.
Mol Genet Metab
; 141(1): 108097, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38113552
3.
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Mol Genet Metab
; 141(3): 108148, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302374
4.
Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.
Mol Genet Metab
; 139(3): 107610, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37245379
5.
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects.
J Inherit Metab Dis
; 46(6): 1078-1088, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603032
6.
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
J Inherit Metab Dis
; 46(6): 1043-1062, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603033
7.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
8.
High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screen.
Klin Padiatr
; 235(6): 366-372, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748509
9.
Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study.
Arch Gynecol Obstet
; 306(5): 1623-1632, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35284957
10.
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
Am J Hum Genet
; 102(6): 1018-1030, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754768
11.
Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.
J Pediatr
; 235: 42-48, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581104
12.
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
Hum Mutat
; 41(5): 946-960, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31943503
13.
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
Mol Genet Metab
; 131(1-2): 163-170, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32675002
14.
Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders.
Mol Genet Metab
; 131(4): 390-397, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33288448
15.
Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications.
J Pediatr
; 216: 165-172.e4, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31604629
16.
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
J Inherit Metab Dis
; 43(4): 712-725, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930732
17.
High throughput newborn screening for aromatic Ê-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
J Inherit Metab Dis
; 43(3): 602-610, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31849064
18.
Inhibition of Endothelial Notch Signaling Impairs Fatty Acid Transport and Leads to Metabolic and Vascular Remodeling of the Adult Heart.
Circulation
; 137(24): 2592-2608, 2018 06 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29353241
19.
Angiocrine Wnt signaling controls liver growth and metabolic maturation in mice.
Hepatology
; 68(2): 707-722, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29059455
20.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731