Reference

Nonketotic hyperglycinemia – Genetics Home Reference

  • Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M. Transient nonketotic hyperglycinemia: two situation studies and literature evaluation. Pediatr Neurol. 2003 Feb28(two):151-five. Review.

  • Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : evaluation and update. J Inherit Metab Dis. 200427(three):417-22. Review.

  • Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): opinions and speculations. Am J Med Genet A. 2006 Jan 15140(two):186-8.

  • Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C, Ugarte M, Vianey-Saban

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    Constitutional mismatch repair deficiency syndrome – Genetics Home Reference

    Constitutional mismatch fix deficiency (CMMRD) syndrome is a scarce condition that tremendously increases the risk of establishing one particular or additional sorts of cancer in young children and youthful older people. The cancers that most normally occur in CMMRD syndrome are cancers of the (big intestine) and rectum (collectively referred to as colorectal cancer), brain, and blood (leukemia or lymphoma).

    Nearly all individuals with CMMRD syndrome develop cancer in advance of age 18, generally in late childhood. The age of analysis differs relying on the cancer form brain cancers, leukemia, and lymphomas have a tendency to occur at more youthful

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    ADPEAF – Genetics Home Reference

    Autosomal dominant partial epilepsy with auditory options (ADPEAF) is an uncommon kind of epilepsy that runs in families. This ailment will cause seizures typically characterised by sound-connected (auditory) indications this kind of as buzzing, buzzing, or ringing. Some people practical experience extra complex seems in the course of a seizure, this kind of as precise voices or tunes, or changes in the volume of seems. Some people with ADPEAF instantly become unable to recognize language prior to losing consciousness in the course of a seizure. This lack of ability to recognize speech is acknowledged as receptive aphasia. Much

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    Saul-Wilson syndrome – Genetics Home Reference

    Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K Undiagnosed Health conditions Community Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA third, Tiller GE, Wilson WG, Hamid R,

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