An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Autor: Kohan R; Centre for the Study of Inherited Metabolic Diseases (CEMECO), Children's Hospital, School of Medicine, National University Cordoba, Cordoba, Argentina., Cismondi IA, Kremer RD, Muller VJ, Guelbert N, Anzolini VT, Fietz MJ, Ramírez AM, Halac IN

Publikováno v: Clinical genetics [Clin Genet] 2009 Oct; Vol. 76 (4), pp. 372-82.

Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).

Autor: Sun, Yu, Almomani, Rowida, Breedveld, Guido J., Santen, Gijs W.E., Aten, Emmelien, Lefeber, Dirk J., Hoff, Jorrit I., Brusse, Esther, Verheijen, Frans W., Verdijk, Rob M., Kriek, Marjolein, Oostra, Ben, Breuning, Martijn H., Losekoot, Monique, Dunnen, Johan T., Warrenburg, Bart P., Maat‐Kievit, Anneke J.A.

Publikováno v: Human Mutation; May2013, Vol. 34 Issue 5, p706-713, 8p

Genetic Disorders and the Fetus : Diagnosis, Prevention and Treatment

Autor: Aubrey Milunsky, Jeff M. Milunsky

Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition Brand new edition of the world's leading text on prenatal diagnosis This 6th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence a