Work

Adult-Onset Metachromatic Leukodystrophy: Two Cases

Year: 2011

Type: article

Abstract: Metachromatic Leukodystrophy(MLD) is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the disease has three major clinical forms as late infantile,juvenile and adult form. It is a rare disorder. For the patients who did not develop neurological findings bone marrow or hematopoietic stem cell transplantation may be effective as treatment

Source: DOAJ (DOAJ: Directory of Open Access Journals)

Authors: Gaye Eryaşar, Yeşim Beckmann, Yaprak Seçil

Institution: Izmir Atatürk Eğitim ve Araştırma Hastanesi

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4381060313

FWCI:

Cites:

Cited by:

Related to: 10