Detalles de la búsqueda
1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26634836
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-26310964
3.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1041-57, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25875215
4.
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1059-74, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25875216
5.
Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life.
J Inherit Metab Dis
; 37(2): 189-95, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-23949009
6.
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia.
J Inherit Metab Dis
; 37(1): 31-7, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23797949
7.
Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.
Mol Genet Metab
; 108(1): 1-7, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23219290
8.
Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome.
Am J Med Genet A
; 161A(5): 1008-11, 2013 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-23532938
9.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22971958
10.
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Mol Genet Metab
; 107(1-2): 72-80, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22520952
11.
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
J Inherit Metab Dis
; 35(5): 797-806, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22249333
12.
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance.
J Inherit Metab Dis
; 35(4): 613-25, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22544437
13.
Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Ann Neurol
; 68(5): 743-52, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21031586
14.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
J Inherit Metab Dis
; 38(6): 1155-6, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26077420
15.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
J Inherit Metab Dis
; 38(6): 1157-8, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26077421
16.
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy.
JIMD Rep
; 32: 87-94, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27325427
17.
Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria.
Prostaglandins Leukot Essent Fatty Acids
; 109: 52-7, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-27269713
18.
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.
Orphanet J Rare Dis
; 10: 163, 2015 Dec 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-26693825
19.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
JIMD Rep
; 23: 101-12, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25940036
20.
Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.
Gene
; 538(1): 188-94, 2014 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24440240