Results 121 to 130 of about 15,059 (213)

Lentiviral haematopoietic stem-cell gene therapy for early-onset metachromatic leukodystrophy: long-term results from a non-randomised, open-label, phase 1/2 trial and expanded access

The Lancet, 2022
F. Fumagalli, Valeria Calbi, Maria Grazia Natali Sora, M. Sessa, C. Baldoli, P. Rancoita, F. Ciotti, M. Sarzana, M. Fraschini, A. Zambon, S. Acquati, D. Redaelli, Vanessa Attanasio, S. Miglietta, Fabiola de Mattia, F. Barzaghi, F. Ferrua, M. Migliavacca, F. Tucci, V. Gallo, U. Del Carro, Sabrina Canale, I. Spiga, L. Lorioli, S. Recupero, E. Fratini, F. Morena, P. Silvani, M. Calvi, M. Facchini, S. Locatelli, Ambra Corti, S. Zancan, G. Antonioli, Giada Farinelli, M. Gabaldo, J. Garcia-Segovia, L. Schwab, G. Downey, M. Filippi, M. Cicalese, S. Martino, C. Di Serio, F. Ciceri, M. Bernardo, L. Naldini, A. Biffi, A. Aiuti   +47 more
semanticscholar   +1 more source

Metachromatic Leukodystrophy

, 2022
null Sudhir Saxena, null Rahul Dev, null Pradeep K. Roul, null Aditi Saini   +3 more
  +4 more sources

White Matter Disease in a Toddler With New‐Onset Seizures

Annals of the Child Neurology Society, Volume 3, Issue 3, Page 245-246, September 2025.
Olivia Viscuso, Bhairav Patel, James B. Gibson, Louisa G. Keith   +3 more
wiley   +1 more source

Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale

Journal of Patient-Reported Outcomes, 2018
Background Metachromatic leukodystrophy (MLD) is a rare disease with three forms based on the age at onset of signs and symptoms. The objective of this study was to develop a caregiver-reported clinical outcome assessment that measures impairments in ...
T. Michelle Brown, Susan Martin, Sheri E. Fehnel, Linda S. Deal   +3 more
doaj   +1 more source

Emerg Infect Dis [PDF]

We describe a strain of Lassa virus representing a putative new lineage that was isolated from a cluster of human infections with an epidemiologic link to Togo. This finding extends the known range of Lassa virus to Togo.2018UL1 TR000454/TR/NCATS NIH HHS/

core  

Metachromatic leukodystrophy

, 2021
Alexander Westphal, Miranda Farmer
  +4 more sources

Developing therapeutic approaches for metachromatic leukodystrophy

Drug Design, Development and Therapy, 2013
Shilpa A Patil,1 Gustavo HB Maegawa1,2 1McKusick-Nathans Institute of Genetic Medicine, 2Department of Pediatrics, The Johns Hopkins School of Medicine, Baltimore, MD, USA Abstract: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal ...
Patil SA, Maegawa GHB
doaj  

Magnetic resonance imaging (MRI) findings in white matter disease of brain [PDF]

, 2008
Demyelinating and dysmyelinating white matter diseases are important components of neurological problems. Recently, Magnetic Resonance Imaging (MRI) has played a key role in diagnoses of white matter diseases.
Ahsan, Humera, Ajmal, Fozia, Azeemuddin, Muhammad, Iqbal, Farah, Rafique, Muhammad Zafar, Wahid, Mohsin   +5 more
core   +1 more source

Clinical and Radiological Evaluation of Pediatric Leukodystrophies: A Prospective Study from a Tertiary Care Center in Pakistan [PDF]

Objective: To evaluate the clinical and magnetic resonance imaging (MRI) characteristics of pediatric patients with leukodystrophies and assess the diagnostic value of MRI in a low-resource setting. Materials & Methods: This prospective observational
Inthikhab Khalil, Muhammad Islam, Rimsha Farooq, Sana Jamshid, Sumaira Noureen, Zakir Rahman   +5 more
core   +2 more sources

A study on enzyme activities of some sphingolipidoses

The Turkish Journal of Pediatrics, 1994
Enzyme activities were determined in fibroblast cell cultures of eight patients suspected of having a type of sphingolipidosis. The patients were 0 to 4 years of age; four were female and four were male.
H A Ozkara, M C Arikan, M Topçu, S Emre, Y Renda   +4 more
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