BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

210 related articles for article (PubMed ID: 35164810)

  • 1. Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi).
    Schoenmakers DH; Beerepoot S; van den Berg S; Adang L; Bley A; Boelens JJ; Fumagalli F; Goettsch WG; Grønborg S; Groeschel S; van Hasselt PM; Hollak CEM; Lindemans C; Mochel F; Mol PGM; Sevin C; Zerem A; Schöls L; Wolf NI
    Orphanet J Rare Dis; 2022 Feb; 17(1):48. PubMed ID: 35164810
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.
    Laugwitz L; Schoenmakers DH; Adang LA; Beck-Woedl S; Bergner C; Bernard G; Bley A; Boyer A; Calbi V; Dekker H; Eichler F; Eklund E; Fumagalli F; Gavazzi F; Grønborg SW; van Hasselt P; Langeveld M; Lindemans C; Mochel F; Oberg A; Ram D; Saunier-Vivar E; Schöls L; Scholz M; Sevin C; Zerem A; Wolf NI; Groeschel S
    Eur J Paediatr Neurol; 2024 Mar; 49():141-154. PubMed ID: 38554683
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
    Schoenmakers DH; Mochel F; Adang LA; Boelens JJ; Calbi V; Eklund EA; Grønborg SW; Fumagalli F; Groeschel S; Lindemans C; Sevin C; Schöls L; Ram D; Zerem A; Graessner H; Wolf NI
    Orphanet J Rare Dis; 2024 Feb; 19(1):46. PubMed ID: 38326898
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective.
    Beerepoot S; Nierkens S; Boelens JJ; Lindemans C; Bugiani M; Wolf NI
    Orphanet J Rare Dis; 2019 Nov; 14(1):240. PubMed ID: 31684987
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland.
    Morton G; Thomas S; Roberts P; Clark V; Imrie J; Morrison A
    Orphanet J Rare Dis; 2022 Nov; 17(1):403. PubMed ID: 36329444
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy.
    Sevin C; Barth M; Wilds A; Afriyie A; Walz M; Dillon A; Howie K; Pang F
    Orphanet J Rare Dis; 2022 Sep; 17(1):329. PubMed ID: 36056437
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers.
    Harrington M; Whalley D; Twiss J; Rushton R; Martin S; Huynh L; Yang H
    Orphanet J Rare Dis; 2019 Apr; 14(1):89. PubMed ID: 31036045
    [TBL] [Abstract][Full Text] [Related]  

  • 8. The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland.
    Thomas S; Morrison A; Morton G; Roberts P; Clark V; Imrie J
    Orphanet J Rare Dis; 2024 Feb; 19(1):87. PubMed ID: 38403596
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Developing therapeutic approaches for metachromatic leukodystrophy.
    Patil SA; Maegawa GH
    Drug Des Devel Ther; 2013; 7():729-45. PubMed ID: 23966770
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel candidate disease for gene therapy: metachromatic leukodystrophy.
    Biffi A; Naldini L
    Expert Opin Biol Ther; 2007 Aug; 7(8):1193-205. PubMed ID: 17696818
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial.
    Í Dali C; Sevin C; Krägeloh-Mann I; Giugliani R; Sakai N; Wu J; Wasilewski M
    Mol Genet Metab; 2020; 131(1-2):235-244. PubMed ID: 32792226
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy.
    Virgens MY; Siebert M; Bock H; Burin M; Giugliani R; Saraiva-Pereira ML
    Gene; 2015 Aug; 568(1):69-75. PubMed ID: 25965562
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis.
    Madaan P; Jauhari P; Chakrabarty B; Kumar A; Gulati S
    Neuropediatrics; 2019 Oct; 50(5):318-321. PubMed ID: 31319425
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Electroneurography and Advanced Neuroimaging Profile in Pediatric-onset Metachromatic Leukodystrophy.
    Raina A; Nair SS; Nagesh C; Thomas B; Nair M; Sundaram S
    J Pediatr Neurosci; 2019; 14(2):70-75. PubMed ID: 31516623
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.
    Ługowska A; Musielak M; Jamroz E; Pyrkosz A; Kmieć T; Tylki-Szymańska A; Bednarska-Makaruk M
    Gene; 2013 Sep; 526(2):176-81. PubMed ID: 23701968
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Gallbladder abnormalities in children with metachromatic leukodystrophy.
    Kim J; Sun Z; Ezekian B; Schooler GR; Prasad VK; Kurtzberg J; Rice HE; Tracy ET
    J Surg Res; 2017 Feb; 208():187-191. PubMed ID: 27993207
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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.
    Fumagalli F; Calbi V; Natali Sora MG; Sessa M; Baldoli C; Rancoita PMV; Ciotti F; Sarzana M; Fraschini M; Zambon AA; Acquati S; Redaelli D; Attanasio V; Miglietta S; De Mattia F; Barzaghi F; Ferrua F; Migliavacca M; Tucci F; Gallo V; Del Carro U; Canale S; Spiga I; Lorioli L; Recupero S; Fratini ES; Morena F; Silvani P; Calvi MR; Facchini M; Locatelli S; Corti A; Zancan S; Antonioli G; Farinelli G; Gabaldo M; Garcia-Segovia J; Schwab LC; Downey GF; Filippi M; Cicalese MP; Martino S; Di Serio C; Ciceri F; Bernardo ME; Naldini L; Biffi A; Aiuti A
    Lancet; 2022 Jan; 399(10322):372-383. PubMed ID: 35065785
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
    Adang LA; Bonkowsky JL; Boelens JJ; Mallack E; Ahrens-Nicklas R; Bernat JA; Bley A; Burton B; Darling A; Eichler F; Eklund E; Emrick L; Escolar M; Fatemi A; Fraser JL; Gaviglio A; Keller S; Patterson MC; Orchard P; Orthmann-Murphy J; Santoro JD; Schöls L; Sevin C; Srivastava IN; Rajan D; Rubin JP; Van Haren K; Wasserstein M; Zerem A; Fumagalli F; Laugwitz L; Vanderver A
    Cytotherapy; 2024 Apr; ():. PubMed ID: 38613540
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome.
    Ahn H; Seo GH; Keum C; Heo SH; Kim T; Choi J; Yum MS; Lee BH
    Brain Dev; 2020 May; 42(5):414-417. PubMed ID: 32113700
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Phenotypic variation between siblings with Metachromatic Leukodystrophy.
    Elgün S; Waibel J; Kehrer C; van Rappard D; Böhringer J; Beck-Wödl S; Just J; Schöls L; Wolf N; Krägeloh-Mann I; Groeschel S
    Orphanet J Rare Dis; 2019 Jun; 14(1):136. PubMed ID: 31186049
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.