Found: 17
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Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 2, p. 29, doi. 10.3390/ijns10020029
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- Publication type:
- Article
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
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- Publication type:
- Article
Family‐centred care interventions for children with chronic conditions: A scoping review.
- Published in:
- Health Expectations, 2024, v. 27, n. 1, p. 1, doi. 10.1111/hex.13897
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- Publication type:
- Article
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
- Published in:
- BMC Pediatrics, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12887-023-04393-4
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- Publication type:
- Article
Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research.
- Published in:
- Quality of Life Research, 2023, v. 32, n. 8, p. 2319, doi. 10.1007/s11136-023-03393-2
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- Publication type:
- Article
Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.
- Published in:
- Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8
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- Publication type:
- Article
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
- Published in:
- 2021
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- Publication type:
- corrected article
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
- Published in:
- Trials, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13063-021-05791-8
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- Publication type:
- Article
Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
- Published in:
- 2021
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- Publication type:
- journal article
New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 903, doi. 10.1002/jimd.12371
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- Publication type:
- Article
Ataxia and confusion in a 10-year-old girl.
- Published in:
- 2021
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- Publication type:
- Case Study
Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.
- Published in:
- Pediatric Transplantation, 2020, v. 24, n. 4, p. 1, doi. 10.1111/petr.13718
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- Publication type:
- Article
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
- Published in:
- 2020
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- Publication type:
- journal article
Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 4, p. 1369, doi. 10.1007/s11011-018-0218-2
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- Publication type:
- Article
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 2, p. 443, doi. 10.1007/s11011-016-9933-8
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- Publication type:
- Article
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 1, p. 13, doi. 10.1002/ajmg.a.35651
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- Publication type:
- Article
A deleterious founder mutation in the BMPER gene causes diaphanospondylodysostosis (DSD).
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2801, doi. 10.1002/ajmg.a.34240
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- Publication type:
- Article