Found: 14
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Colorectal cancer in two pre-teenage siblings with familial adenomatous polyposis.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
- Published in:
- 2015
- By:
- Publication type:
- journal article
LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 6, p. 347, doi. 10.3390/metabo11060347
- By:
- Publication type:
- Article
Peroxisomal protein PEX13 functions in selective autophagy.
- Published in:
- EMBO Reports, 2017, v. 18, n. 1, p. 48, doi. 10.15252/embr.201642443
- By:
- Publication type:
- Article
Clinical utility gene card for: Zellweger syndrome spectrum.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1, doi. 10.1038/ejhg.2014.250
- By:
- Publication type:
- Article
Rational diagnostic strategy for Zellweger syndrome spectrum patients.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 741, doi. 10.1038/ejhg.2008.252
- By:
- Publication type:
- Article
Biopsy findings of symptomatic cerebral X-linked adrenoleucodystrophy and histological differentiation from multiple sclerosis.
- Published in:
- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 5, p. 658, doi. 10.1111/nan.12089
- By:
- Publication type:
- Article
Factors Influencing Willingness to Participate in Clinical Studies in Pediatric Anesthesia (FILIPPA): A vignette‐based, structured interview study.
- Published in:
- Pediatric Anesthesia, 2024, v. 34, n. 8, p. 800, doi. 10.1111/pan.14922
- By:
- Publication type:
- Article
Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1<sup>tm1Kds</sup> mice and X‐linked adrenoleukodystrophy patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1174, doi. 10.1002/jimd.12389
- By:
- Publication type:
- Article
Inborn errors of metabolism leading to neuronal migration defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 1, p. 145, doi. 10.1002/jimd.12194
- By:
- Publication type:
- Article
Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 19, p. 3844, doi. 10.1093/hmg/ddt238
- By:
- Publication type:
- Article
B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2019, p. N.PAG, doi. 10.1177/1756286419868133
- By:
- Publication type:
- Article
B cell depletion can be effective in multiple sclerosis but failed in a patient with advanced childhood cerebral X-linked adrenoleukodystrophy.
- Published in:
- Therapeutic Advances in Neurological Disorders, 2019, v. 12, p. N.PAG, doi. 10.1177/1756286419868133
- By:
- Publication type:
- Article
Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients.
- Published in:
- Human Mutation, 2006, v. 27, n. 11, p. 1157, doi. 10.1002/humu.9462
- By:
- Publication type:
- Article