Results 81 to 90 of about 3,970 (184)

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European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

MAPK dysregulation in the brain pathology of mucopolysaccharidosis IIIB disease

, 2010
The accumulation of heparan sulfate (HS) in lysosomes is the primary consequence of the enzyme defect (α-N-acetylglucosaminidase) in Mucopolysaccharidosis type IIIB.
Cecere, Francesca
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A study on enzyme activities of some sphingolipidoses

The Turkish Journal of Pediatrics, 1994
Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male.
H A Ozkara, M C Arikan, M Topçu, S Emre, Y Renda   +4 more
doaj  

Metachromatic leukodystrophy: Diffusion MR imaging findings

, 2002
Herein the case of a 10-month-old boy, with metachromatic leukodystrophy, is reported. Diffusion MR imaging performed with an echo-planar trace sequence revealed a cytotoxic edema-like pattern (high signal intensity on b = 1000 s/mm(2) images and low ...
Sener, RN
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Magnetic resonance imaging enhancement of spinal nerve roots in a boy with X-linked adrenoleukodystrophy before diagnosis of chronic inflammatory demyelinating polyneuropathy

Radiology Case Reports
We present a boy with X-linked adrenoleukodystrophy (X-ALD) who was found to have lumbar nerve root enhancement on a screening MRI of the spine. The MRI was performed for lower extremity predominant symptoms.
Derryl Miller, MD, Laurence Walsh, MD, Lisa Smith, MD, Nucharin Supakul, MD, Chang Ho, MD, Toshihiro Onishi, MD   +5 more
doaj   +1 more source

Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.

, 2006
Contains fulltext : 49461.pdf (Publisher’s version ) (Closed access)BACKGROUND: P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrophy (late-onset MLD), which, in contrast to infantile MLD,
Moser, H., Cox, T., Krammer, M., Lefevre, M., Olivier, C., Moser, A., Zalc, B., Gieselmann, V., Bernheimer, H., Aboul-Enein, F., Tylki-Szymanska, A., Tardieu, S., LeGuern, E., Colsch, B., Krivit, W., Berger, J., Reuner, U., Rauschka, H., Baumann, N., Schmidbauer, M., Wevers, R.A., Turpin, J.C.   +21 more
core   +1 more source

Biochemical pathogenesis of genetic leukodystrophies: comparison of metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe\u27s disease).

, 1984
Among the genetic leukodystrophies known to occur in man, the fundamental genetic defects have been clarified in two disorders, metachromatic leukodystrophy and globoid cell leukodystrophy (Krabbe\u27s disease).
Suzuki, K, Samy, Ravi N, MD
core  

MOESM2 of Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

, 2019
Additional file 2: Table S1. Clinical spectrum of metachromatic leukodystrophy (MLD). Most prominent symptoms during natural disease course are reported per MLD type.
Shanice Beerepoot (7819016), Nicole Wolf (7819025), Marianna Bugiani (490560), Jaap Boelens (7819019), Caroline Lindemans (7819022), Stefan Nierkens (368570)   +5 more
core   +1 more source

The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric patients

, 2015
How to Cite This Article: Jabbehdari S, Rahimian E, Jafari N, Sanii S, Khayatzadeh Kakhki S, Nejad Biglari H. The Clinical Features and Diagnosis of Metachromatic Leukodystrophy: A Case Series of Iranian Pediatric Patients. Iran J Child Neurol.
SANII, Sara, NEJAD BIGLARI, Habibe, JAFARI, Narjes, JABBEDARI, Sayena, KHAYATZADEH KAKHKI, Simin, RAHIMIAN, Elham   +5 more
core   +1 more source

Molecular basis of different forms of metachromatic leukodystrophy

, 1991
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of arylsulfatase A. Three forms of the disease can be distinguished according to severity and the age at onset: late infantile (1 to 2 ...
Fluharty, Claire B., Gieselmann, Volkmar, Fluharty, Arvan L., Figura, Kurt von, Polten, Andreas, Kappler, Joachim   +5 more
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