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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 41"
Page 1
The Changing Face of Adrenoleukodystrophy.
Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA, Majzoub JA. Zhu J, et al. Endocr Rev. 2020 Aug 1;41(4):577-93. doi: 10.1210/endrev/bnaa013. Endocr Rev. 2020. PMID: 32364223 Free PMC article. Review.
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...(Endocrine Reviews 41: 1 - 17, 2020)....
Adrenoleukodystrophy (ALD) is a rare X-linked disorder of peroxisomal oxidation due to mutations in ABCD1. ...(Endocrine Revie …
Thyroid Hormone Transporters.
Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE. Groeneweg S, et al. Endocr Rev. 2020 Apr 1;41(2):bnz008. doi: 10.1210/endrev/bnz008. Endocr Rev. 2020. PMID: 31754699 Review.
Mutations in MCT8 and in OATP1C1 have been associated with clinical disorders. Different animal models have provided insight into the functional role of thyroid hormone transporters, in particular MCT8. ...Complementary studies employing animal and human models will provid …
Mutations in MCT8 and in OATP1C1 have been associated with clinical disorders. Different animal models have provided insight into the …
Fragile X syndrome.
Laxova R. Laxova R. Adv Pediatr. 1994;41:305-42. Adv Pediatr. 1994. PMID: 7992687 Review.
Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protei …
Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) d …
"Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy.
Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV. Moser HW, et al. J Mol Neurosci. 2007 Sep;33(1):105-13. doi: 10.1007/s12031-007-0041-4. J Mol Neurosci. 2007. PMID: 17901554 Review.
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that damages the nervous system and is associated with the accumulation of saturated very long chain fatty acids (SVLCFA). Oral administration of "Lorenzo's oil" (LO), a 4:1 mixture of glyceryl trioleate an …
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that damages the nervous system and is associated with the accumul …
Clinical manifestations and treatment of Menkes disease and its variants.
Kodama H, Murata Y, Kobayashi M. Kodama H, et al. Pediatr Int. 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. Pediatr Int. 1999. PMID: 10453199 Review.
The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease is a neurodegenerative disease with X-linked recessive inheritance. Orally administered copper accumulates in the intestine, …
The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease …
Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with "Lorenzo's oil".
van Geel BM, Assies J, Haverkort EB, Koelman JH, Verbeeten B Jr, Wanders RJ, Barth PG. van Geel BM, et al. J Neurol Neurosurg Psychiatry. 1999 Sep;67(3):290-9. doi: 10.1136/jnnp.67.3.290. J Neurol Neurosurg Psychiatry. 1999. PMID: 10449548 Free PMC article. Clinical Trial.
OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0). ...RESULTS: The …
OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically …
Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy.
Uziel G, Bertini E, Bardelli P, Rimoldi M, Gambetti M. Uziel G, et al. Dev Neurosci. 1991;13(4-5):274-9. doi: 10.1159/000112173. Dev Neurosci. 1991. PMID: 1817033 Clinical Trial.
We report the biochemical and clinical results obtained during a dietary erucic acid (C22:1) therapy in 20 patients affected by X-linked adrenoleukodystrophy (ALD). Six patients were very severely affected, 9 had milder neurological symptoms and 5 were presym …
We report the biochemical and clinical results obtained during a dietary erucic acid (C22:1) therapy in 20 patients affected by X …
Clinical whole exome sequencing in child neurology practice.
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A. Srivastava S, et al. Ann Neurol. 2014 Oct;76(4):473-83. doi: 10.1002/ana.24251. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25131622
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autosomal dominant (AD) disorder, 11 had a single autosomal recessive (AR) disorder, 1 had an X-linked dominant disorder, and 1 had …
RESULTS: The overall presumptive diagnostic rate for our cohort was 41% (n = 32 of 78 patients). Nineteen patients had a single autos …
Effect of ageing on reactivation of the human X-linked HPRT locus.
Migeon BR, Axelman J, Beggs AH. Migeon BR, et al. Nature. 1988 Sep 1;335(6185):93-6. doi: 10.1038/335093a0. Nature. 1988. PMID: 2457812
In mammals, X-chromosome dosage compensation is achieved by inactivating one X chromosome in female cells. To test the hypothesis that genes on the silent X chromosome reactivate as a consequence of ageing, we examined the X-linked hypoxanthine phosphoribosyl …
In mammals, X-chromosome dosage compensation is achieved by inactivating one X chromosome in female cells. To test the hypothesis that ge …
A mixture of oleic, erucic and conjugated linoleic acids modulates cerebrospinal fluid inflammatory markers and improve somatosensorial evoked potential in X-linked adrenoleukodystrophy female carriers.
Cappa M, Bizzarri C, Petroni A, Carta G, Cordeddu L, Valeriani M, Vollono C, De Pasquale L, Blasevich M, Banni S. Cappa M, et al. J Inherit Metab Dis. 2012 Sep;35(5):899-907. doi: 10.1007/s10545-011-9432-3. Epub 2011 Dec 22. J Inherit Metab Dis. 2012. PMID: 22189598 Free PMC article.
X-linked adrenoleukodystrophy is a rare inherited demyelinating disorder characterized by an abnormal accumulation of very long chain fatty acids, mainly hexacosanoic acid (26:0), due to a mutation of the gene encoding for a peroxisomal membrane protein. ...
X-linked adrenoleukodystrophy is a rare inherited demyelinating disorder characterized by an abnormal accumulation of very lon …
17 results