Works matching IS 01418955 AND DT 2019 AND VI 42 AND IP 2
Results: 21
Synaptic energy metabolism and neuronal excitability, in sickness and health.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 220, doi. 10.1002/jimd.12071
- By:
- Publication type:
- Article
Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 381, doi. 10.1002/jimd.12016
- By:
- Publication type:
- Article
Cardiac disease in mucopolysaccharidosis type III.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 276, doi. 10.1002/jimd.12015
- By:
- Publication type:
- Article
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.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 243, doi. 10.1002/jimd.12013
- By:
- Publication type:
- Article
Neurometabolic hereditary diseases of adults.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 389, doi. 10.1002/jimd.12074
- By:
- Publication type:
- Article
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 295, doi. 10.1002/jimd.12010
- By:
- Publication type:
- Article
The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 209, doi. 10.1002/jimd.12065
- By:
- Publication type:
- Article
Aceruloplasminemia: Neurodegeneration with brain iron accumulation associated with psychosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 195, doi. 10.1002/jimd.12064
- By:
- Publication type:
- Article
Long‐term evaluation of urinary copper excretion and non‐caeruloplasmin associated copper in Wilson disease patients under medical treatment.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 371, doi. 10.1002/jimd.12046
- By:
- Publication type:
- Article
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 353, doi. 10.1002/jimd.12045
- By:
- Publication type:
- Article
Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X‐linked adrenoleukodystrophy.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 313, doi. 10.1002/jimd.12044
- By:
- Publication type:
- Article
Allogeneic hematopoietic cell transplantation in Farber disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 286, doi. 10.1002/jimd.12043
- By:
- Publication type:
- Article
The cholic acid extension study in Zellweger spectrum disorders: Results and implications for therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 303, doi. 10.1002/jimd.12042
- By:
- Publication type:
- Article
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 333, doi. 10.1002/jimd.12041
- By:
- Publication type:
- Article
Development and feasibility of the use of an assessment tool measuring treatment efficacy in patients with trimethylaminuria: A mixed methods study.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 362, doi. 10.1002/jimd.12023
- By:
- Publication type:
- Article
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022
- By:
- Publication type:
- Article
Factor VIII and vWF deficiency in STT3A‐CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 325, doi. 10.1002/jimd.12021
- By:
- Publication type:
- Article
Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 197, doi. 10.1002/jimd.12008
- By:
- Publication type:
- Article
Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 254, doi. 10.1002/jimd.12007
- By:
- Publication type:
- Article
Issue Information.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. N.PAG, doi. 10.1002/jimd.12001
- Publication type:
- Article
Choline‐related‐inherited metabolic diseases—A mini review.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 237, doi. 10.1002/jimd.12011
- By:
- Publication type:
- Article