Detalhe da pesquisa
1.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563533
2.
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
3.
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
4.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Ann Neurol
; 86(1): 116-128, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31018246
5.
Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Genet Med
; 21(3): 580-590, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997390
6.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Mol Genet Metab
; 126(4): 397-405, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827756
7.
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.
J Inherit Metab Dis
; 42(2): 243-253, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30671983
8.
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry.
J Inherit Metab Dis
; 42(6): 1162-1175, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30734935
9.
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.
J Inherit Metab Dis
; 42(3): 398-406, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30706953
10.
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
J Inherit Metab Dis
; 42(1): 93-106, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740724
11.
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.
Am J Hum Genet
; 97(1): 163-9, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26073778
12.
Biochemical markers and neuropsychological functioning in distal urea cycle disorders.
J Inherit Metab Dis
; 41(4): 657-667, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29423830
13.
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.
J Inherit Metab Dis
; 41(4): 741-742, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29234995
14.
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 41(4): 743-744, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330779
15.
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
16.
Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I.
Biochim Biophys Acta
; 1852(5): 768-77, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25558815
17.
In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis.
Mol Genet Metab
; 117(1): 19-26, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26597322
18.
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.
J Inherit Metab Dis
; 39(2): 219-29, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26634836
19.
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.
J Inherit Metab Dis
; 39(2): 231-41, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26310964
20.
Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.
J Inherit Metab Dis
; 39(5): 661-672, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106216