Found: 28
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Anaplerotic Therapy Using Triheptanoin in Two Brothers Suffering from Aconitase 2 Deficiency.
- Published in:
- Metabolites (2218-1989), 2024, v. 14, n. 4, p. 238, doi. 10.3390/metabo14040238
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- Publication type:
- Article
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 8, p. 1281, doi. 10.1007/s00467-015-3071-0
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- Publication type:
- Article
Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.
- Published in:
- Pediatric Nephrology, 2016, v. 31, n. 8, p. 1283, doi. 10.1007/s00467-015-3070-1
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- Publication type:
- Article
Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG).
- Published in:
- 2020
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- Publication type:
- journal article
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
- Published in:
- Movement Disorders, 2022, v. 37, n. 1, p. 137, doi. 10.1002/mds.28804
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- Publication type:
- Article
Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.643805
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- Publication type:
- Article
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.
- Published in:
- Science Translational Medicine, 2024, v. 16, n. 741, p. 1, doi. 10.1126/scitranslmed.adg2841
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- Publication type:
- Article
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 933, doi. 10.1038/ejhg.2012.36
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- Publication type:
- Article
Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study.
- Published in:
- PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0114669
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- Publication type:
- Article
A comparison of immediate release and delayed release cysteamine in 17 patients with nephropathic cystinosis.
- Published in:
- 2021
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- Publication type:
- journal article
Mannose supplementation in PMM2-CDG.
- Published in:
- 2021
- By:
- Publication type:
- letter
Translational balancing questioned: Unaltered glycosylation during disulfiram treatment in mannosyl‐oligosaccharide alpha‐1,2‐mannnosidase‐congenital disorders of glycosylation (MAN1B1‐CDG).
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2021, v. 60, n. 1, p. 42, doi. 10.1002/jmd2.12213
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- Publication type:
- Article
SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Niemann-Pick type C disease in a 13-year-old boy from Nepal: A genetically confirmed case.
- Published in:
- 2015
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- Publication type:
- Case Study
3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1323, doi. 10.1002/jimd.12410
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- Publication type:
- Article
N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1370, doi. 10.1002/jimd.12306
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- Publication type:
- Article
Mitochondrial DNA mutations in Medulloblastoma.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01602-0
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- Publication type:
- Article
It Is Not Always Alcohol Abuse—A Transferrin Variant Impairing the CDT Test.
- Published in:
- Alcohol & Alcoholism, 2016, v. 51, n. 2, p. 148, doi. 10.1093/alcalc/agv099
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- Publication type:
- Article
It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.
- Published in:
- Alcohol & Alcoholism. Supplement, 2016, v. 51, n. 2, p. 148, doi. 10.1093/alcalc/agv099
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- Publication type:
- Article
Hypertransaminasemia and liver fibrosis associated with haptoglobin retention and anhaptoglobinemia in a paediatric patient.
- Published in:
- Liver International, 2021, v. 41, n. 10, p. 2427, doi. 10.1111/liv.15029
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- Publication type:
- Article
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211034969
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- Publication type:
- Article
Tubulin Folding Cofactor D Deficiency: Missing the Diagnosis With Whole Exome Sequencing.
- Published in:
- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211034969
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- Publication type:
- Article
A mutation in the neonatal isoform of SCN2A causes neonatal‐onset epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 3, p. 941, doi. 10.1002/ajmg.a.62581
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- Publication type:
- Article
Cerebro‐oculo‐facio‐skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 930, doi. 10.1002/ajmg.a.62048
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- Publication type:
- Article
Transient N‐glycosylation abnormalities likely due to a de novo loss‐of‐function mutation in the delta subunit of coat protein I.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1371, doi. 10.1002/ajmg.a.61190
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- Publication type:
- Article
A Novel Mutation in PIGW Causes Glycosylphosphatidylinositol Deficiency without Hyperphosphatasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3319, doi. 10.1002/ajmg.a.37950
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- Publication type:
- Article
Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients.
- Published in:
- Pharmaceutics, 2023, v. 15, n. 7, p. 1851, doi. 10.3390/pharmaceutics15071851
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- Publication type:
- Article
Uridine Treatment of the First Known Case of SLC25A36 Deficiency.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9929, doi. 10.3390/ijms22189929
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- Publication type:
- Article