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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, resulti …
The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease is a n …
Phenotypes and Genotypes in Patients with SMC1A-Related Developmental and Epileptic Encephalopathy.
Bozarth XL, Lopez J, Fang H, Lee-Eng J, Duan Z, Deng X. Bozarth XL, et al. Genes (Basel). 2023 Mar 31;14(4):852. doi: 10.3390/genes14040852. Genes (Basel). 2023. PMID: 37107610 Free PMC article.
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gene regulation. ...Here, we report on phenotypes and genotypes of three females with DEE and de novo SMC1A variants, including a novel splice- …
The X-linked SMC1A gene encodes a core subunit of the cohesin complex that plays a pivotal role in genome organization and gen …
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR. Agrawal N, et al. Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8. Eur J Med Genet. 2022. PMID: 35144014
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. ...An attempt was also made to establish a genotype-phenotype correlation. Positive family history was present in 31% (41/130) of pati …
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. . …
Attitudes toward presymptomatic testing and prenatal diagnosis for adrenoleukodystrophy among affected families.
Costakos D, Abramson RK, Edwards JG, Rizzo WB, Best RG. Costakos D, et al. Am J Med Genet. 1991 Dec 1;41(3):295-300. doi: 10.1002/ajmg.1320410307. Am J Med Genet. 1991. PMID: 1789282
One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X-linked inheritance, and attit …
One hundred and thirty-six individuals with a family history of X-linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy ( …
A simple screening method using ion chromatography for the diagnosis of cerebral creatine deficiency syndromes.
Wada T, Shimbo H, Osaka H. Wada T, et al. Amino Acids. 2012 Aug;43(2):993-7. doi: 10.1007/s00726-011-1146-1. Epub 2011 Nov 13. Amino Acids. 2012. PMID: 22080216
CR, GA, and CN were separated clearly with the retention times (mean SD, n = 3) of 5.54 0.0035 min for CR, 6.41 0.0079 min for GA, and 13.53 0.046 min for CN. This new method should provide a simple screening test for the diagnosis of CCDS....
CR, GA, and CN were separated clearly with the retention times (mean SD, n = 3) of 5.54 0.0035 min for CR, 6.41 0.0079 min for GA, an …