Results 21 to 30 of about 5,931 (183)
Perforin gene transfer into hematopoietic stem cells improves immune dysregulation in murine models of perforin deficiency [PDF]
, 2014 Defects in perforin lead to the failure of T and NK cell cytotoxicity, hypercytokinemia, and the immune dysregulatory condition known as familial hemophagocytic lymphohistiocytosis (FHL).
Alonso-Ferrero, ME +13 more
core +2 more sources
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
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
doaj
Adeno-associated virus and lentivirus vectors: a refined toolkit for the central nervous system. [PDF]
, 2016 The last two decades have witnessed the increasing instrumentalization of viruses, which have progressively evolved into highly potent gene transfer vehicles for a wide spectrum of applications.
Blessing, D., Déglon, N.
core +1 more source
FITM2-Related Siddiqi Syndrome in Two Iranian Siblings. [PDF]
Clin Case RepABSTRACT We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare ...
Ahmadi R +3 more
europepmc +2 more sources
Metachromatic Leukodystrophy Variants
Pediatric Neurology Briefs, 1993 Clinical, pathological, imaging, and genetic findings in a family with multiple allelic mutations of metachromatic leukodystrophy (MLD) are reported from McGill University, Montreal, and McMaster University, Hamilton, Canada.
J Gordon Millichap
doaj +1 more source
inPHAP: Interactive visualization of genotype and phased haplotype data [PDF]
, 2014 Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding the phase of ...
Jäger, Günter +2 more
core +3 more sources
Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy
Journal of Central Nervous System Disease, 2013 Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD.
Mitra Assadi +3 more
doaj +2 more sources
Atypical MRI features in familial adult onset Alexander disease: case report [PDF]
, 2016 BACKGROUND: Alexander disease (AxD) is a rare neurological disease, especially in adults. It shows variable clinical and radiological features. CASE PRESENTATION: We diagnosed a female with AxD presenting with paroxysmal numbness of the limbs at the ...
Anna Zhou +7 more
core +1 more source
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
doaj +1 more source