Results 151 to 160 of about 15,059 (213)

Engineered arylsulfatase A with increased activity, stability and brain delivery for therapy of metachromatic leukodystrophy. [PDF]

Mol Ther, 2023
Yaghootfam C, Sylvester M, Turk B, Gieselmann V, Matzner U.   +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

Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy

Emerging Infectious Diseases, 2016
Rebekka Kohlmann, Karin Barenberg, Agnes Anders, Sören G. Gatermann   +3 more
doaj   +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

38: Alloanergized HLA-Mismatched Bone Marrow Transplantation – Low Incidence of Clinically Significant GVHD and Viral Infection Resulting in Long Term Disease Free Survival [PDF]

, 1928
Davies, J., Gribben, J., Brennan, L., Nadler, L., Guinan, E.   +4 more
core   +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

Evaluating meaningful changes in physical functioning and cognitive declines in metachromatic leukodystrophy: a caregiver interview study. [PDF]

J Patient Rep Outcomes, 2023
Martin S, Harris N, Romanus D.
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

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

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