Results 101 to 110 of about 7,353 (158)

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

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

Preliminary Data of the First Year of Newborn Screening for Metachromatic Leukodystrophy (MLD) in Lombardy. [PDF]

Int J Neonatal Screen
Vasco A, Meta A, Berardo C, Camerlengo D, Fumagalli F, Tonduti D, Fiamingo I, Montrasio C, Postorivo D, Rizzetto M, Fede S, Mld-Nbs Study Group, Bozic R, Ferron F, Calbi V, Zuccotti G, Aiuti A, la Marca G, Carelli S, Cereda C.   +19 more
europepmc   +1 more source

CRISPR-mediated genomic repair of ARSA mutations in metachromatic leukodystrophy: a transformative step toward precision neuromodulation. [PDF]

Ann Med Surg (Lond)
Mahin FE, Rubab M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]

J Inherit Metab Dis
McCarron EP, Blau N, Eden ER, Platt FM, Aerts JM, Jones SA, Ferreira CR, Stepien KM.   +7 more
europepmc   +1 more source

Automated Deep Learning-Based Demyelination Load Segmentation in Metachromatic Leukodystrophy. [PDF]

Clin Neuroradiol
Martin P, Schaerer J, Cajgfinger T, Delmonte A, Bender B, Whiteman D, Malanga CJ, Fusellier A, Scott D, Suhy J, Rosewich H, Groeschel S, Bracoud L.   +12 more
europepmc   +1 more source

소아 신경영상에서 보이는 비선천성 원인의 영상 소견: 임상 화보. [PDF]

J Korean Soc Radiol
Gala F, Jain N, Salunke N.
europepmc   +1 more source

Advances in Research on <i>AARS1</i>/<i>AARS2</i>-Related Disorders: A Focus on Leukodystrophies. [PDF]

Genes (Basel)
Yang Z, Zhang W, Yu F, Duan X, Zhou M, Tang B.   +5 more
europepmc   +1 more source

Developmental trajectory of individuals with Pelizaeus-Merzbacher Disease (PMD). [PDF]

Mol Genet Metab
Sevagamoorthy A, Woidill S, Sudilovsky G, Kelley K, Vaia Y, Gavazzi F, Schmidt JL, Pizzino A, D'Aiello R, Uebergang E, Bruschi F, Mirchi A, Abe-Hatano C, Sartorelli J, Nicita F, Cunningham C, Tonduti D, Bertini E, Bernard G, Inoue K, Wolf NI, Adang LA, Shults J, Vanderver A.   +23 more
europepmc   +1 more source

Reframing the value of reserve antibiotics: how ultra-orphan reimbursement pathways could offer fair and equitable access to new antibiotics. [PDF]

Health Policy Open
Quinn J, Amersdorffer J, Boysen M, Duffy-Roger O, Hewitt C, Jain M, McKinney D, Ivezic-Schoenfeld Z, Toumi M, Vanbiervliet M, Wasem J.   +10 more
europepmc   +1 more source