Results 101 to 110 of about 5,931 (183)

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  

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
europepmc   +1 more source

Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult-Onset Metachromatic Leukodystrophy. [PDF]

Case Rep Psychiatry
Metelmann M, Köhler W, Schomerus G, Speerforck S.   +3 more
europepmc   +1 more source

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates [PDF]

, 2004
Amirav, I, Bisgaard, H, Chodhari, R, Chung, EMK, Faeroe, O, Gardiner, RM, Jeganathan, D, Luder, AS, Meeks, M, Mitchison, HM, Nielsen, K, Smyth, D   +11 more
core   +2 more sources

Stem cell and gene therapies for leukodystrophies. [PDF]

Mol Ther Methods Clin Dev
Lin W, Zhang M, Zheng S, Lian Q.
europepmc   +1 more source