Results 81 to 90 of about 7,348 (160)

ePoster

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

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  

ePosters Virtual

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

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

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
core  

Identification of two novel arylsulfatase A mutations with a polymorphism as a cause of metachromatic leukodystrophy

, 2009
Objective: Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A or saposin B.
Sinici, Incilay, Oezkara, H. Asuman, Oezkara, HATİCE ASUMAN, Soenmez, F. Muejgan, Oender, Evren, TOPÇU, MERAL   +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
core   +1 more source

Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations

Therapeutics and Clinical Risk Management, 2017
Masoumeh Dehghan Manshadi,1 Behnam Kamalidehghan,2,3 Omid Aryani,1 Elham Khalili,1 Sepideh Dadgar,1 Mahdi Tondar,4 Fatemeh Ahmadipour,5 Goh Yong Meng,6 Massoud Houshmand1,31Department of Medical Genetics, Special Medical Center, Tehran, Iran; 2Medical ...
Dehghan Manshadi M, Kamalidehghan B, Aryani O, Khalili E, Dadgar S, Tondar M, Ahmadipour F, Yong Meng G, Houshmand M   +8 more
doaj  

Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy. [PDF]

Int J Neonatal Screen
Vasco A, Meta A, Berardo C, Camerlengo D, Fumagalli F, Tonduti D, Fiamingo I, Montrasio C, Postorivo D, Rizzetto M, Fede S, Mld-Nbs Study Group, Bozic R, Ferron F, Calbi V, Zuccotti G, Aiuti A, la Marca G, Carelli S, Cereda C.   +19 more
europepmc   +1 more source