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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 101"
Page 1
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. van de Kamp JM, et al. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. J Med Genet. 2013. PMID: 23644449
BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlatio …
BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its …
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. ...Positive family history was present in 31% (41/130) of patients. Developmental delay and intellectual disability were the ma …
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. . …
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.
Greene D; NIHR BioResource; Richardson S, Turro E. Greene D, et al. Am J Hum Genet. 2017 Jul 6;101(1):104-114. doi: 10.1016/j.ajhg.2017.05.015. Epub 2017 Jun 29. Am J Hum Genet. 2017. PMID: 28669401 Free PMC article.
Variant-specific prior information derived from allele frequency databases, consequence prediction algorithms, or genomic datasets can be integrated into the inference. ...
Variant-specific prior information derived from allele frequency databases, consequence prediction algorithms, or genomic datasets ca …
Therapeutic plasma exchange in treatment of adrenoleukodystrophy.
Bambauer R, Schiel R, Cordes H, Latza R. Bambauer R, et al. Ther Apher. 2000 Oct;4(5):338-41. doi: 10.1046/j.1526-0968.2000.004005338.x. Ther Apher. 2000. PMID: 11111814
Adrenoleukodystrophy (ALD) is an X-linked disorder of metabolism of very long-chain fatty acids (VLCFA) with a frequency of up to 1:20,000 in males. ...
Adrenoleukodystrophy (ALD) is an X-linked disorder of metabolism of very long-chain fatty acids (VLCFA) with a frequency of up …