Results 61 to 70 of about 3,164 (162)

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  

ePoster

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

ePosters Virtual

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  

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

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

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
doaj   +1 more source

Metachromatic Leukodystrophy

, 2010
Margit Pavelka, Jürgen Roth
  +4 more sources

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  

Gallbladder polyps in association with metachromatic leukodystrophy

Journal of Pediatric Surgery Case Reports, 2020
Eduje Thomas, Tommaso Gargano, Michele Libri, Giovanni Ruggeri, Nunzio Salfi, Elisa Mazzoni, Mario Lima   +6 more
doaj   +1 more source

Juvenile Metachromatic Leukodystrophy in a Seven-Year-Old Child With a Familial History: A Case Report Suggesting Saposin B Deficiency. [PDF]

Cureus
Hassan AO, Arrab R, Benchchehab Y, Al Ammari I, Dini N.   +4 more
europepmc   +1 more source