Results 11 to 20 of about 3,970 (184)

Molecular Basis of Metachromatic Leukodystrophies

Pediatric Neurology Briefs, 1991
Arylsulfatase A alleles were analyzed in 68 patients with metachromatic leukodystrophy in the Department of Biochemistry II, Georg-August-Universitat Gottingen, Gosslerstr, Gottingen, Germany.
J Gordon Millichap
doaj   +2 more sources

Developing therapeutic approaches for metachromatic leukodystrophy

Drug Design, Development and Therapy, 2013
Shilpa A Patil,1 Gustavo HB Maegawa1,2 1McKusick-Nathans Institute of Genetic Medicine, 2Department of Pediatrics, The Johns Hopkins School of Medicine, Baltimore, MD, USA Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal ...
Patil SA, Maegawa GHB
doaj   +1 more source

Remitting - Relapsing Polyneuropathy In Juvenile Metachromatic Leukodystrophy

Annals of Indian Academy of Neurology, 2004
A five-year-old girl manifested with acute relapsing polyradiculo-neuropathy. Elevated cerebrospinal fluid proteins, electro-physiological evidence of conduction block and remitting course suggested possible acquired demyelinating radiculoneuropathy ...
Taly AB, Santosh V, Balamurugan N, Arunodaya GR, Christopher R, Jayakumar PN   +5 more
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Metachromatic Leukodystrophy

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder caused by disease-causing variants in the gene coding for arylsulfatase A, leading to deficient enzyme activity and subsequent accumulation of sulfatides. MLD is characterized by demyelination and neurodegeneration of the central and peripheral nervous system ...
Lamichhane A, Rocha Cabrero F.
europepmc   +5 more sources

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review [PDF]

European Journal of Medical Research
Background Metachromatic leukodystrophy (MLD; OMIM 250100 and 249900) is a rare lysosomal storage disease caused by deficient arylsulfatase A activity, leading to accumulation of sulfatides in the nervous system.
Shun-Chiao Chang, Christian Stefan Eichinger, Polly Field   +2 more
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Gallbladder polyps in association with metachromatic leukodystrophy [PDF]

Journal of Pediatric Surgery Case Reports, 2020
Polypoid lesions of the gallbladder (PLG) are rare in the paediatric population. Growth in technology with the availability of high-quality ultrasonography and in the experience of radiologists in detecting such lesions, has led to an increase in ...
Eduje Thomas, Tommaso Gargano, Michele Libri, Giovanni Ruggeri, Nunzio Salfi, Elisa Mazzoni, Mario Lima   +6 more
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A case of adult-onset metachromatic leukodystrophy beginning with behavioral symtoms

Klinik Psikiyatri Dergisi, 2023
Metachromatic leukodystrophy is a rare inherited disorder of the nervous system with great clinical variability characterized by loss of both cognitive and motor functions upon extensive white matter damage by the accumulation of sulfatides.
Hazan Tunalı, Süheyla Ünal, Ceren Acar, Emel Sağlar Özer   +3 more
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Late infantile and adult‐onset metachromatic leukodystrophy due to novel missense variants in the PSAP gene: Case report from India

JIMD Reports, 2023
Metachromatic leukodystrophy (MLD) due to Sap‐B deficiency is a rare autosomal recessive disorder caused due to biallelic variants in the PSAP gene. The PSAP gene encodes a precursor protein prosaposin, which is subsequently cleaved to form four active ...
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Heli Shah, Naresh Tayade, C. Ratna Prabha, Frenny Sheth, Harsh Sheth   +7 more
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Infantile Metachromatic Leukodystrophy: Case Report

Case Reports in Clinical Practice, 2023
Metachromatic Leukodystrophy (MLD) is commonly characterized by the accumulation of sulfatide in various organs, including the central nervous system, leading to neurological and mental symptoms.
Salsabeel Hamad, Israa Abufara, Safaa Zagharneh, Taimaa Abureesh, Afnan W. M. Jobran   +4 more
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Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy. [PDF]

Neuropediatrics, 2023
Background and Purpose: Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder leading to progressive demyelination and, consecutively, to cognitive and motor decline.
Amedick LB, Martin P, Beschle J, Strölin M, Wilke M, Wolf N, Pouwels P, Hagberg G, Klose U, Naegele T, Kraegeloh-Mann I, Groeschel S.   +11 more
europepmc   +2 more sources