Works matching IS 01418955 AND DT 2022 AND VI 45 AND IP 3
Results: 24
Lost in translation—Challenges in drug development for inherited metabolic diseases.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 381, doi. 10.1002/jimd.12501
- By:
- Publication type:
- Article
CDG or not CDG.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 383, doi. 10.1002/jimd.12498
- By:
- Publication type:
- Article
Obituary for Claude Bachmann, MD (1941–2022).
- Published in:
- 2022
- By:
- Publication type:
- Obituary
Delineating the epilepsy phenotype of NGLY1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 571, doi. 10.1002/jimd.12494
- By:
- Publication type:
- Article
Inborn errors of metabolism and their impact in paediatric dentistry.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 417, doi. 10.1002/jimd.12493
- By:
- Publication type:
- Article
Characterization of exonic variants of uncertain significance in very long‐chain acyl‐CoA dehydrogenase identified through newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 529, doi. 10.1002/jimd.12492
- By:
- Publication type:
- Article
Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 593, doi. 10.1002/jimd.12491
- By:
- Publication type:
- Article
Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 605, doi. 10.1002/jimd.12490
- By:
- Publication type:
- Article
Priapism caused by partial deficiency of tetrahydrobiopterin through hypofunction of the sympathetic neurons in sepiapterin reductase gene‐disrupted mice.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 621, doi. 10.1002/jimd.12489
- By:
- Publication type:
- Article
Molybdenum cofactor deficiency: A natural history.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 456, doi. 10.1002/jimd.12488
- By:
- Publication type:
- Article
3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486
- By:
- Publication type:
- Article
Ppt1‐deficiency dysregulates lysosomal Ca<sup>++</sup> homeostasis contributing to pathogenesis in a mouse model of CLN1 disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 635, doi. 10.1002/jimd.12485
- By:
- Publication type:
- Article
No effect of oral ketone ester supplementation on exercise capacity in patients with McArdle disease and healthy controls: A randomized placebo‐controlled cross‐over study.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 502, doi. 10.1002/jimd.12484
- By:
- Publication type:
- Article
Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 431, doi. 10.1002/jimd.12483
- By:
- Publication type:
- Article
A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 406, doi. 10.1002/jimd.12482
- By:
- Publication type:
- Article
Loading of cell cultures with cholesterol‐dextran particles as a new functional test for Niemann–Pick type C disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 584, doi. 10.1002/jimd.12481
- By:
- Publication type:
- Article
Medium branched chain fatty acids improve the profile of tricarboxylic acid cycle intermediates in mitochondrial fatty acid β‐oxidation deficient cells: A comparative study.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 541, doi. 10.1002/jimd.12480
- By:
- Publication type:
- Article
No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross‐over trial.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 517, doi. 10.1002/jimd.12479
- By:
- Publication type:
- Article
Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC‐E1 structure and function.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 557, doi. 10.1002/jimd.12477
- By:
- Publication type:
- Article
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 386, doi. 10.1002/jimd.12475
- By:
- Publication type:
- Article
Glutaminase 2 knockdown reduces hyperammonemia and associated lethality of urea cycle disorder mouse model.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 470, doi. 10.1002/jimd.12474
- By:
- Publication type:
- Article
Is the brain involved in patients with late‐onset Pompe disease?
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 493, doi. 10.1002/jimd.12469
- By:
- Publication type:
- Article
AAV‐mediated expression of galactose‐1‐phosphate uridyltransferase corrects defects of galactose metabolism in classic galactosemia patient fibroblasts.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 481, doi. 10.1002/jimd.12468
- By:
- Publication type:
- Article
Issue Information.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 1, doi. 10.1002/jimd.12397
- Publication type:
- Article