Prevalence of 459+1G>A and P426L mutations in metachromatic leukodystrophy-patients from some European countries

• Autorzy: Lugowska A. , Tylki-Szymanska A. , Amaral O. , Berger J. , Berna L. , Bosshard N. , Fersom A. , Lissens W. , Marcao A. , Michelakakis H. , Molzer B. , Regis S. , Sinke R. , Czartoryska B.
• Języki publikacji: EN
• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2003
• Tom: 50
• Numer: Supplement 1
• Opis fizyczny: p.311

Twórcy

autor

Lugowska A.

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland

autor

Tylki-Szymanska A.

• Clinic of Metabolic Diseases, Institute Memorial, Children's Health Center, Warsaw

autor

Amaral O.

• Unidad de Enzimologia, Inst de Biologia Molecular e Celular, Porto, Portugal

autor

Berger J.

• Brain Research Institute, University of Vienna, Wieden, Austria

autor

Berna L.

• Institute of Inherited Metabolic Diseases, Charles University, Praga, Czechy

autor

Bosshard N.

• Division of Metabolism and Molecular Pediatrics, University Children’s Hospital, Zurich, Szwajcaria

autor

Fersom A.

• Genetics Centre, Guy’s Hospital, Londyn, Wielka Brytania

autor

Lissens W.

• Center for Medical Genetics, University Hospital VUB, Bruksela, Belgia

autor

Marcao A.

• U.B. Lisosoma e Peroxisoma, IBMC, University of Porto, Porto, Portugalia

autor

Michelakakis H.

• Dept. of Enzymology and Cellular Function, Institute of Child Health, Ateny, Grecja

autor

Molzer B.

• Dept. of Neurochemistry, Inst of Neurology, University of Vienna, Wieden, Austria

autor

Regis S.

• Dept of Metabolic Diseases, Institute G. Gaslini, Genua, Wlochy

autor

Sinke R.

• Dept. of Medical Genetics, University Medical Center, Utrecht, Holandia

autor

Czartoryska B.

• Department of Genetics, Institute of Psychiatry and Neurology, Sobieskiego 9, 02-957 Warsaw, Poland