Results 91 to 100 of about 11,658 (188)

Acute-onset paralytic strabismus in toddlers is important to consider as a potential early sign of late-infantile Metachromatic Leukodystrophy.

European journal of paediatric neurology, 2022
Shanice Beerepoot, N. Wolf, Katharina Wehner, B. Bender, M. S. van der Knaap, I. Krägeloh-Mann, S. Groeschel   +6 more
semanticscholar   +1 more source

MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation

NeuroImage: Clinical, 2022
Joana Feldmann, Pascal Martin, B. Bender, L. Laugwitz, Laimdota Zizmare, C. Trautwein, I. Krägeloh-Mann, U. Klose, S. Groeschel   +8 more
semanticscholar   +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  

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

European journal of paediatric neurology
L. Laugwitz, Daphne H. Schoenmakers, L. Adang, Stefanie Beck-Woedl, Caroline Bergner, Geneviève Bernard, Annette Bley, Audrey Boyer, Valeria Calbi, Hanka Dekker, Florian Eichler, Erik Eklund, Francesca Fumagalli, Francesco Gavazzi, S. Grønborg, Peter van Hasselt, M. Langeveld, C. Lindemans, Fanny Mochel, Andreas Oberg, Dipak Ram, Elise Saunier-Vivar, L. Schöls, Michael Scholz, Caroline Sevin, A. Zerem, Nicole I Wolf, Samuel Groeschel   +27 more
semanticscholar   +1 more source

Characterizing circulating biomarkers for childhood dementia disorders: A scoping review of clinical trials. [PDF]

Neurotherapeutics
D'Silva A, Barnes J, Djafar J, Bhattacharya K, Yan J, Mohammad S, Bandodkar S, Johnson A, Tchan M, Miteff C, Elvidge KL, Dale RC, Farrar M.   +12 more
europepmc   +1 more source

Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Genetics in Medicine, 2020
Xinying Hong, Jessica Daiker, M. Sadilek, Nicole Ruiz-Schultz, A. Kumar, Stevie Norcross, W. Dansithong, Teryn R. Suhr, M. Escolar, C. Ronald Scott, A. Rohrwasser, M. Gelb   +11 more
semanticscholar   +1 more source

Natural history of adult-onset metachromatic leukodystrophy. [PDF]

J Neurol
Mandia D, Dufour J, Fenu S, Salsano E, Benzoni C, Sellal F, Pariente J, Cengiz N, Pettazzoni M, Levade T, Lamari F, Caillaud C, La Piana R, Brassat D, Durand-Dubief F, Besson G, Odent S, Devos D, Barbay M, Makrygianni M, Kumperscak HG, Froissart R, Nadjar Y.   +22 more
europepmc   +1 more source

Metachromatic Leukodystrophy and Limb Hypertrophy [PDF]

Proceedings of the Royal Society of Medicine, 1975
A G L Whitelaw, E M Brett
openaire   +3 more sources

'Lenmeldy (OTL-200) in MLD: FDA's validation of advanced therapy'. [PDF]

Ann Med Surg (Lond)
Qureshi AA, Shaikh B, Aswad AS, Saeed AH, Tabassum H, Tahir MF, Jaber MH.   +6 more
europepmc   +1 more source

A Rare Clinical Confluence: Metachromatic Leukodystrophy and Distal Renal Tubular Acidosis. [PDF]

Indian J Nephrol
Kumar N, Panda S, Shanker A.
europepmc   +1 more source