Zobrazeno 1 - 10
of 72
pro vyhledávání: '"Metachromatic leukodystrophy (MLD)"'
Autor:
Nivedita Singh, Anil Kumar Singh
Publikováno v:
Journal of Biological Engineering, Vol 18, Iss 1, Pp 1-25 (2024)
Abstract Cerebroside sulfotransferase (CST) is considered as therapeutic target for substrate reduction therapy (SRT) for metachromatic leukodystrophy (MLD). The present study evaluates the therapeutic potential of 57 phytoconstituents of Withania so
Externí odkaz:
https://doaj.org/article/8781ef6e4241466ab16f7a076d1781ae
Autor:
Sophie Thomas, Alexandra Morrison, Georgina Morton, Pat Roberts, Vivienne Clark, Jackie Imrie
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disease characterised by the progressive loss of motor function and severe decline in cognitive function. Limited information is available on the
Externí odkaz:
https://doaj.org/article/a1c30c0939664ae79ec15292c27276ed
Autor:
Shailendra Katwal, MD, Sundar Suwal, MD, Suman Lamichhane, MD, Amrit Bhusal, MBBS, Aastha Ghimire, MBBS
Publikováno v:
Radiology Case Reports, Vol 18, Iss 11, Pp 4182-4186 (2023)
This abstract provides an overview of metachromatic leukodystrophy (MLD), an autosomal recessive disorder stemming from arylsulfatase A deficiency. MLD leads to cerebroside sulfate accumulation, causing central and peripheral demyelination. Clinical
Externí odkaz:
https://doaj.org/article/359a964c385c493f85141109f9b0005c
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)
Abstract Objective To understand the benefit-risk profile for historical and current treatments for MLD. Methods A systematic review was conducted on the effectiveness, safety, and costs of MLD treatments: allogeneic haematopoietic stem cell transpla
Externí odkaz:
https://doaj.org/article/35522a495033463991e77a95135e1294
Autor:
Georgina Morton, Sophie Thomas, Pat Roberts, Vivienne Clark, Jackie Imrie, Alexandra Morrison
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-13 (2022)
Abstract Metachromatic Leukodystrophy (MLD) is a rare, autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). MLD causes progressive loss of motor function and severe decline in cognitive function,
Externí odkaz:
https://doaj.org/article/bde73c3fe9f948f78e52fc315e536c04
Akademický článek
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Akademický článek
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Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive disease, which is caused by mutations in the arylsulfatase A (ARSA) gene. The ARSA gene is located on chromosome 22q13, containing eight exons. According to the age of onset, MLD can be
Externí odkaz:
https://doaj.org/article/8a72425146cc4cce967b600ac7af6431
Autor:
Nayibe Tatiana Sanchez-Álvarez, Paula Katherine Bautista-Niño, Juanita Trejos-Suárez, Norma Cecilia Serrano-Díaz
Publikováno v:
Open Biology, Vol 12, Iss 7 (2022)
Metachromatic leukodystrophy is a neurological lysosomal deposit disease that affects public health despite its low incidence in the population. Currently, few reports are available on pathophysiological events related to enzyme deficiencies and subs
Externí odkaz:
https://doaj.org/article/70644f6bacd64a76b1097fc0868b4492
Autor:
Wenjin Li, Joren Guillaume, Younis Baqi, Isabell Wachsmann, Volkmar Gieselmann, Serge Van Calenbergh, Christa E. Müller
Publikováno v:
Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 35, Iss 1, Pp 1503-1512 (2020)
Metachromatic leukodystrophy (MLD) is a rare genetic disease characterised by a dysfunction of the enzyme arylsulphatase A leading to the lysosomal accumulation of cerebroside sulphate (sulphatide) causing subsequent demyelination in patients. The en
Externí odkaz:
https://doaj.org/article/583b2f06989a4d3d8e2f03ed4b6cde5e