نتایج جستجو برای: metachromatic leukodystrophy

تعداد نتایج: 3076  

Journal: :International journal of medical anesthesiology 2023

Mitochromatic Leukodystrophy is a progressive degenerative disorder of white matter. Patients with this disease frequently require anaesthesia for various diagnostic and surgical procedures. These patients pose lot anaesthetic problems like seizures, spasticity, risk aspiration, copious secretions, in addition to other organs dysfunctions. Our case report about provision general anaethesia fema...

2012
Ilhem Barboura Irène Maire Salima Ferchichi Abdelhedi Miled

Scholz’s disease or metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency in arylsulfatase A (ARSA: EC 3.1.6.8). This enzyme is responsible for the degradation of sulfatides commonly called cerebroside-3-sulfate or 3-O sulfogalactosylceramide in galactocerebroside and sulfate. The success of hydrolysis of these sphingolipids by ARSA necessarily depends on the ...

2013
Mitra Assadi Dah-Jyuu Wang Yadira Velazquez-Rodriquez Paola Leone

Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD. The data revealed elevated myoinositol/creatine and lactate/creatine ratios as well as decreased N-acetyl aspartate/creatine ratios. We propos...

Journal: :Molecular genetics and metabolism 2005
Agnieszka Lugowska Olga Amaral Johannes Berger Linda Berna Nils U Bosshard Amparo Chabas Anthony Fensom Volkmar Gieselmann Natalia G Gorovenko Willy Lissens Jan-Eric Mansson Ana Marcao Helen Michelakakis Hanno Bernheimer Natalia V Ol'khovych Stefano Regis Richard Sinke Anna Tylki-Szymanska Barbara Czartoryska

In this multicentre study, we examined the prevalence of two mutations in the arylsulfatase A (ARSA) gene, i.e., c.459+1G>A and p.P426L, in 384 unrelated European patients presenting with different types of metachromatic leukodystrophy (MLD). In total, c.459+1G>A was found 194 times among the 768 investigated ARSA alleles (25%), whereas p.P426L was identified 143 times (18.6%). Thus, these two ...

2013
Shilpa A Patil Gustavo HB Maegawa

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase A (ASA), resulting in impaired degradation of sulfatide, an essential sphingolipid of myelin. The clinical manifestations of MLD are characterized by progressive demyelination and subsequent neurological symptoms resulting in severe debilitation. The availability of therapeu...

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