Detalhe da pesquisa
1.
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Clin Genet
; 103(6): 644-654, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36840705
2.
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
J Inherit Metab Dis
; 46(6): 1063-1077, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429829
3.
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
4.
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
5.
Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset.
Brain
; 145(2): 644-654, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34590685
6.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Am J Hum Genet
; 105(2): 384-394, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31256876
7.
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Genet Med
; 24(8): 1781-1788, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35503103
8.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
J Inherit Metab Dis
; 45(6): 1070-1081, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054426
9.
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
10.
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
J Inherit Metab Dis
; 44(3): 629-638, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33274439
11.
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.
J Inherit Metab Dis
; 44(6): 1463-1480, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34418116
12.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Brain
; 143(8): 2437-2453, 2020 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32761064
13.
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
14.
[Dietary treatment of inborn errors of metabolism-a balancing act between indulgence and therapy]. / Ernährung bei angeborenen Stoffwechselerkrankungen ein Spagat zwischen Genuss und Therapie.
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
; 63(7): 864-871, 2020 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-32542434
15.
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Am J Hum Genet
; 99(6): 1377-1387, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839873
16.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Ann Neurol
; 83(5): 970-979, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29665094
17.
Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated.
Neuropediatrics
; 49(6): 363-368, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29954013
18.
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
J Inherit Metab Dis
; 40(1): 75-101, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27853989
19.
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Ann Clin Transl Neurol
; 11(4): 883-898, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263760
20.
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
J Inherit Metab Dis
; 36(3): 525-33, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22971958