Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online

Autor: F X, Arrendondo-Vega, I, Santisteban, L D, Notarangelo, J, El Dahr, R, Buckley, C, Roifman, M E, Conley, M S, Hershfield

Publikováno v: Human mutation. 11(6)

The degree of immunodeficiency associated with deficiency of adenosine deaminase (ADA) is variable. Most patients are infants with severe combined immunodeficiency (SCID), but in about 20 percent immune dysfunction becomes manifest later in childhood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::eb7494bfa3618fcc7fab715feb3358ad
https://pubmed.ncbi.nlm.nih.gov/10200056

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del

Autor: J. El Dahr, Lucia Dora Notarangelo, Mary Ellen Conley, Rebecca H. Buckley, Francisco X. Arredondo-Vega, Chaim M. Roifman, Ines Santisteban, Hershfield

Publikováno v: Human Mutation. 11:482-482

The degree of immunodeficiency associated with deficiency of adenosine deaminase (ADA) is variable. Most patients are infants with severe combined immunodeficiency (SCID), but in about 20 percent immune dysfunction becomes manifest later in childhood

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ddc2873775d045bf2bf9a0f97994095b
https://doi.org/10.1002/(sici)1098-1004(1998)11:6<482::aid-humu14>3.0.co

Porphyrinuria in Autism Spectrum Disorder: A Review.

Autor: Bjørklund G; Department of Research, Council for Nutritional and Environmental Medicine, Mo i Rana, Norway., Semenova Y; School of Medicine, Nazarbayev University, Astana, Kazakhstan., El-Ansary A; Autism Center, Lotus Holistic Alternative Medical Center, Abu Dhabi, United Arab Emirates., Al-Ayadhi LY; Department of Physiology, Faculty of Medicine, King Saud University, Riyadh, Saudi Arabia.; Autism Research and Treatment Center, Riyadh, Saudi Arabia.

Publikováno v: Current medicinal chemistry [Curr Med Chem] 2024; Vol. 31 (42), pp. 6911-6925.

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