Results 131 to 140 of about 15,059 (213)

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

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  

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 G. Bergner, Geneviève Bernard, Annette Bley, Audrey Boyer, Valeria Calbi, Hanka Dekker, Florian Eichler, Erik A. 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, N. Wolf, Samuel Groeschel   +27 more
semanticscholar   +1 more source

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.

Molecular Genetics and Metabolism, 2022
V. Santhanakumaran, S. Groeschel, K. Harzer, C. Kehrer, Saskia Elgün, S. Beck-Wödl, H. Hengel, L. Schöls, T. Haack, I. Krägeloh-Mann, L. Laugwitz   +10 more
semanticscholar   +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

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

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

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

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