Results 91 to 100 of about 7,348 (160)

Adult-onset metachromatic leukodystrophy with compound heterozygous ARSA gene mutation presented with mania and cognitive decline

, 2016
Adult-onset metachromatic leukodystrophy is often a diagnostic challenge to many clinicians. It may be presented with psychiatry symptom before other evidences of leukodystrophy are uncovered.
Farah Nadhirah
core   +1 more source

Automated Deep Learning-Based Demyelination Load Segmentation in Metachromatic Leukodystrophy. [PDF]

Clin Neuroradiol
Martin P, Schaerer J, Cajgfinger T, Delmonte A, Bender B, Whiteman D, Malanga CJ, Fusellier A, Scott D, Suhy J, Rosewich H, Groeschel S, Bracoud L.   +12 more
europepmc   +1 more source

Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review. [PDF]

BMC Pediatr
Bai Q, Xiong B, Pei S, Zhou J, Lu J, Pu S, Li L, Xu Q.   +7 more
europepmc   +1 more source

Leukodystrophy, metachromatic

, 1997
Leukodystrophy ...

core  

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review. [PDF]

Int J Neonatal Screen
Laugwitz L, Shenker A, Sluys EF, Pintat S, Whiteman D, Chanson C.   +5 more
europepmc   +1 more source

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions. [PDF]

Neurology
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI.   +29 more
europepmc   +1 more source

Metachromatic leukodystrophy in Greece: observations on 4 cases

, 1990
We report our findings in four cases of metachromatic leukodystrophy diagnosed in Greece during the last 4 years. The age of onset and the clinical symptoms were those described for the late infantile form of the disease.
Michelakakis, H., Dimitriou, E., Skardoutsou, A., Giouroukos, S., Bartsocas, Ch.   +4 more
core  

Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis. [PDF]

Neuroimage Clin
Vorst GHJ, Wolf NI, van Nederpelt DR, Barkhof F, van der Knaap MS, Schoonheim MM, Strijbis EMM, Pouwels PJW.   +7 more
europepmc   +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

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