Results 111 to 120 of about 7,348 (160)

Cross-species efficacy of AAV-mediated ARSA replacement for metachromatic leukodystrophy. [PDF]

J Clin Invest
Ramachandran S, Ardinger J, Bu J, Ramos M, Guo L, Ghosh D, Hossain M, Chou SC, Chen Y, Wischhof E, Ayloo S, Trullo R, Luo Y, Hogestyn JM, DuBreuil DM, Crosier E, Flyer-Adams JG, Richards AM, Tsabar M, Gaglia G, Nass S, Nambiar B, Woodcock D, O'Riordan C, Tang Q, Elmer B, Zhang B, Goulet M, Mueller C.   +28 more
europepmc   +1 more source

PET Beta-Amyloid Tracer Uptake in Leukoencephalopathies: Comparing Metachromatic Leukodystrophy and CADASIL. [PDF]

Eur J Neurol
Benzoni C, Moscatelli M, Bersano A, Del Sole A, Salsano E.   +4 more
europepmc   +1 more source

A novel variant in ARSA causes a rare phenotype of infantile metachromatic leukodystrophy in a Malian family. [PDF]

Neurogenetics
Maiga AB, Arama A, Yalcouyé A, Albakaye M, Weizhen J, Bamba S, Traoré O, Sangaré M, Kotioumbé M, Djimdé SO, Goita MK, Diarra S, Khokha MK, Lakhani SA, Landouré G.   +14 more
europepmc   +1 more source

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan. [PDF]

Mol Genet Metab
Mutua S, Sevagamoorthy A, Woidill S, Orchard PJ, Gavazzi F, MacFarland SP, Russo P, Vanderver A, Adang LA.   +8 more
europepmc   +1 more source

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program. [PDF]

Int J Neonatal Screen
Malvagia S, Bettiol A, Porcaro M, Mura M, Funghini S, Ombrone D, Forni G, Scolamiero E, Coppi F, Damiano R, Cereda C, Simonetti S, Lonetti A, Daniotti M, Caciotti A, Morrone A, Calbi V, Fumagalli F, Aiuti A, Procopio E, Guerrini R, la Marca G.   +21 more
europepmc   +1 more source

Clinical and Radiological Profile of Nine Patients with Metachromatic Leukodystrophy. [PDF]

Mol Syndromol
Kasapkara ÇS, Civelek Ürey B, Bilginer Gürbüz B, Küçükçongar Yavaş A, Keçeli AM, Öncül Ü, Gündüz M, Biberoğlu G, Çıtak Kurt AN, Gürkaş E, Kılıç E, Güleç Ceylan G, Özbek NY.   +12 more
europepmc   +1 more source

Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots. [PDF]

Mol Genet Metab
Shaff A, Basheeruddin K, Bekri S, Brown HA, Church HJ, Gianares J, Hong X, Jones SA, Kappell T, Kubaski F, Oliva P, Orsini J, Tebani A, Wu THY, Lalic G, Gelb MH.   +15 more
europepmc   +1 more source

Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Gangji RN, Ali QA, Dhamija R, Corado AM, Kharbanda S, ACMG Therapeutics Committee6∗documents@acmg.net.   +5 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

Metachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS). [PDF]

Genes (Basel)
Hammoud M, Domínguez-Ruiz M, Assiri I, Rodrigues D, Aboussair N, Lanza VF, Villarrubia J, Colón C, Fdil N, Del Castillo FJ.   +9 more
europepmc   +1 more source