Results 91 to 100 of about 3,970 (184)

Leukodystrophy, metachromatic

, 1997
Leukodystrophy ...

core  

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

Metachromatic Leukodystrophy

, 2010
Margit Pavelka, Jürgen Roth
  +4 more sources

METACHROMATIC LEUKODYSTROPHY AND COINCIDENTAL FINDING OF PAPILLOMATOSIS OF THE GALLBLADDER - A CASE-REPORT

, 1995
In this case report we describe the coincidental finding of polyps in the gallbladder by ultrasound investigation in a six-year-old girl, known to have metachromatic leukodystrophy.
FOCK, JM, PRINS, TR, BEGEER, JH
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  

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

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

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

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

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