Results 21 to 30 of about 7,353 (158)

Metachromatic leukodystrophy: Overveiw [PDF]

, 2014
How to Cite This Article: Zamani GR. Metachromatic leukodystrophy: Overveiw. Iran J Child Neurol Autumn 2014;8:4 (suppl.1):5-6.
ZAMANI, Gholamreza
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Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants

Scientific Reports, 2021
This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh, Mahdieh Soveizi, Ali Reza Tavasoli, Ali Rabbani, Mahmoud Reza Ashrafi, Alfried Kohlschütter, Bahareh Rabbani   +6 more
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Rare case of gallbladder papiloma in children

Journal of Pediatric Surgery Case Reports, 2016
The incidence of villous papilloma of the gallbladder is rarely found amongst children. We report on a 9-year old girl known case of metachromatic leukodystrophy presented with abdominal distension. A radiological examination revealed massive ascites and
Gamal Abbas, Mansour A. Tawfeeq, Ashraf Alsharkawy   +2 more
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A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY

Pakistan Armed Forces Medical Journal, 2021
Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
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Improved Gene Therapy for Metachromatic Leukodystrophy

, 2021
Tricoli L, Vanderver A, Adang L, et al. Improved Gene Therapy for Metachromatic Leukodystrophy. Molecular Therapy .
Wenger, David, Kurre, Peter, Schlotawa, Lars, Jarocha, Danuta Jadwiga, Chappel, Maxwell, Ahrens-Nicklas, Rebecca, Adang, Laura, Guerra, Amaliris, Triebwasser, Michael, Chappell, Maxwell, Tanaka, Naoto, Rivella, Stefano, Tricoli, Lucas, Radhakrishnan, Karthikeyan, Hurwitz, Stephanie, Breda, Laura, Vanderver, Adeline   +16 more
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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
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Anaesthetic Concerns in a Case of Metachromatic Leukodystrophy

, 2022
A 22 year old male patient with metachromatic leukodystrophy presented in our hospital for multiple teeth extraction under general anaesthesia. Metachromatic leukodystrophy is a rare congenital neurodegenerative disorder which predominantly affect the ...
Vaideeshwaran, Eeshwar Murali, Duggappa, Arun Kumar Handigodu, Mathew, Shaji, Biradar, Jyothi   +3 more
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Intestinal Involvement in Metachromatic Leukodystrophy

, 2011
Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. If arylsulfatase A is deficient, sulfatide accumulates. Functionally, this accumulation results in progressive neurological deterioration.
Halûk Yavuz, Hasan Ali Yüksekkaya
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Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide

Journal of Lipid Research, 1974
The livers of four patients with metachromatic leukodystrophy contained galactosyl sulfatide and lactosyl sulfatide, whereas these substances were undetectable in normal human liver.
Mutsumi Sugita, John T. Dulaney, Hugo W. Moser   +2 more
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Lipidomic analysis identifies age-disease-related changes and potential new biomarkers in brain-derived extracellular vesicles from metachromatic leukodystrophy mice

Lipids in Health and Disease, 2022
Background Recent findings show that extracellular vesicle constituents can exert short- and long-range biological effects on neighboring cells in the brain, opening an exciting avenue for investigation in the field of neurodegenerative diseases ...
Melissa R. Pergande, Christina Kang, Diann George, Pearl A. Sutter, Stephen J. Crocker, Stephanie M. Cologna, Maria I. Givogri   +6 more
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