Found: 22
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Autologous, lentivirus‐modified, T‐rapa cell "micropharmacies" for lysosomal storage disorders.
- Published in:
- EMBO Molecular Medicine, 2022, v. 14, n. 4, p. 1, doi. 10.15252/emmm.202114297
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- Publication type:
- Article
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-126
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- Publication type:
- Article
A mutation in the serine protease TMPRSS4 in a novel pediatric neurodegenerative disorder.
- Published in:
- 2013
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- Publication type:
- journal article
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 9, p. e106, doi. 10.1111/epi.12730
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- Publication type:
- Article
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
- Published in:
- 2022
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- Publication type:
- Case Study
Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1204848
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- Publication type:
- Article
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1265115
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- Publication type:
- Article
Symptomatic mosaicism for a novel FBN1 splice site variant in a parent causing inherited neonatal Marfan syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2507, doi. 10.1002/ajmg.a.62339
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- Publication type:
- Article
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1229, doi. 10.1002/ajmg.a.35302
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- Publication type:
- Article
An Unexpected Finding of Hepatosplenomegaly in a Pediatric Patient.
- Published in:
- Clinical Pediatrics, 2022, v. 61, n. 1, p. 81, doi. 10.1177/00099228211059668
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- Publication type:
- Article
Transcriptional Profiling of Endocrine Cerebro- Osteodysplasia Using Microarray and Next-Generation Sequencing.
- Published in:
- PLoS ONE, 2011, v. 6, n. 9, p. 1, doi. 10.1371/journal.pone.0025400
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- Publication type:
- Article
Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single‐center study.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 105, doi. 10.1002/jmd2.12089
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- Publication type:
- Article
Bone marrow‐derived mitochondrial DNA has limited capacity for inter‐tissue transfer in vivo.
- Published in:
- FASEB Journal, 2020, v. 34, n. 7, p. 9297, doi. 10.1096/fj.202000463R
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- Publication type:
- Article
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report.
- Published in:
- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1214137
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- Publication type:
- Article
Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 21, p. 4278, doi. 10.1093/hmg/ddx316
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- Publication type:
- Article
Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
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- Publication type:
- Article
Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes.
- Published in:
- Human Mutation, 2022, v. 43, n. 3, p. 305, doi. 10.1002/humu.24330
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- Publication type:
- Article
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression (Communicated by Georgia Chenevix-Trench).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 32, doi. 10.1002/humu.10278
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- Publication type:
- Article
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
- Published in:
- Canadian Journal of Neurological Sciences, 2019, v. 46, n. 6, p. 717, doi. 10.1017/cjn.2019.240
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- Publication type:
- Article
Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.
- Published in:
- Canadian Journal of Neurological Sciences, 2019, v. 46, n. 4, p. 459, doi. 10.1017/cjn.2019.35
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- Publication type:
- Article
Case of Multiple Sulfatase Deficiency and Ocular Albinism: A Diagnostic Odyssey.
- Published in:
- 2014
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- Publication type:
- Case Study
Lentivirus-mediated gene therapy for Fabry disease.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21371-5
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- Publication type:
- Article