These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

479 related articles for article (PubMed ID: 33882967)

  • 1. Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.
    Mole SE; Schulz A; Badoe E; Berkovic SF; de Los Reyes EC; Dulz S; Gissen P; Guelbert N; Lourenco CM; Mason HL; Mink JW; Murphy N; Nickel M; Olaya JE; Scarpa M; Scheffer IE; Simonati A; Specchio N; Von Löbbecke I; Wang RY; Williams RE
    Orphanet J Rare Dis; 2021 Apr; 16(1):185. PubMed ID: 33882967
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Management Strategies for CLN2 Disease.
    Williams RE; Adams HR; Blohm M; Cohen-Pfeffer JL; de Los Reyes E; Denecke J; Drago K; Fairhurst C; Frazier M; Guelbert N; Kiss S; Kofler A; Lawson JA; Lehwald L; Leung MA; Mikhaylova S; Mink JW; Nickel M; Shediac R; Sims K; Specchio N; Topcu M; von Löbbecke I; West A; Zernikow B; Schulz A
    Pediatr Neurol; 2017 Apr; 69():102-112. PubMed ID: 28335910
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.
    Akyol MU; Alden TD; Amartino H; Ashworth J; Belani K; Berger KI; Borgo A; Braunlin E; Eto Y; Gold JI; Jester A; Jones SA; Karsli C; Mackenzie W; Marinho DR; McFadyen A; McGill J; Mitchell JJ; Muenzer J; Okuyama T; Orchard PJ; Stevens B; Thomas S; Walker R; Wynn R; Giugliani R; Harmatz P; Hendriksz C; Scarpa M; ;
    Orphanet J Rare Dis; 2019 May; 14(1):118. PubMed ID: 31142378
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.
    Akyol MU; Alden TD; Amartino H; Ashworth J; Belani K; Berger KI; Borgo A; Braunlin E; Eto Y; Gold JI; Jester A; Jones SA; Karsli C; Mackenzie W; Marinho DR; McFadyen A; McGill J; Mitchell JJ; Muenzer J; Okuyama T; Orchard PJ; Stevens B; Thomas S; Walker R; Wynn R; Giugliani R; Harmatz P; Hendriksz C; Scarpa M; ;
    Orphanet J Rare Dis; 2019 Jun; 14(1):137. PubMed ID: 31196221
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.
    Fietz M; AlSayed M; Burke D; Cohen-Pfeffer J; Cooper JD; Dvořáková L; Giugliani R; Izzo E; Jahnová H; Lukacs Z; Mole SE; Noher de Halac I; Pearce DA; Poupetova H; Schulz A; Specchio N; Xin W; Miller N
    Mol Genet Metab; 2016 Sep; 119(1-2):160-7. PubMed ID: 27553878
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical management and diagnosis of CLN2 disease: consensus of the Brazilian experts group.
    Sampaio LPB; Manreza MLG; Pessoa A; Gurgel-Giannetti J; Coan AC; Júnior HVL; Embiruçu EK; Henriques-Souza AMM; Kok F
    Arq Neuropsiquiatr; 2023 Mar; 81(3):284-295. PubMed ID: 37059438
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease.
    Gardner E; Bailey M; Schulz A; Aristorena M; Miller N; Mole SE
    Hum Mutat; 2019 Nov; 40(11):1924-1938. PubMed ID: 31283065
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Management of CLN1 Disease: International Clinical Consensus.
    Augustine EF; Adams HR; de Los Reyes E; Drago K; Frazier M; Guelbert N; Laine M; Levin T; Mink JW; Nickel M; Peifer D; Schulz A; Simonati A; Topcu M; Turunen JA; Williams R; Wirrell EC; King S
    Pediatr Neurol; 2021 Jul; 120():38-51. PubMed ID: 34000449
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome.
    Teede HJ; Misso ML; Costello MF; Dokras A; Laven J; Moran L; Piltonen T; Norman RJ;
    Fertil Steril; 2018 Aug; 110(3):364-379. PubMed ID: 30033227
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Criteria for Critical Care Infants and Children: PICU Admission, Discharge, and Triage Practice Statement and Levels of Care Guidance.
    Frankel LR; Hsu BS; Yeh TS; Simone S; Agus MSD; Arca MJ; Coss-Bu JA; Fallat ME; Foland J; Gadepalli S; Gayle MO; Harmon LA; Hill V; Joseph CA; Kessel AD; Kissoon N; Moss M; Mysore MR; Papo ME; Rajzer-Wakeham KL; Rice TB; Rosenberg DL; Wakeham MK; Conway EE;
    Pediatr Crit Care Med; 2019 Sep; 20(9):847-887. PubMed ID: 31483379
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.
    Mazurkiewicz-Bełdzińska M; Del Toro M; Haliloğlu G; Huidekoper HH; Kravljanac R; Mühlhausen C; Andersen BN; Prpić I; Striano P; Auvin S
    Expert Rev Neurother; 2021 Nov; 21(11):1275-1282. PubMed ID: 33538188
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Nonclinical evaluation of CNS-administered TPP1 enzyme replacement in canine CLN2 neuronal ceroid lipofuscinosis.
    Vuillemenot BR; Kennedy D; Cooper JD; Wong AM; Sri S; Doeleman T; Katz ML; Coates JR; Johnson GC; Reed RP; Adams EL; Butt MT; Musson DG; Henshaw J; Keve S; Cahayag R; Tsuruda LS; O'Neill CA
    Mol Genet Metab; 2015 Feb; 114(2):281-93. PubMed ID: 25257657
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study.
    Nickel M; Simonati A; Jacoby D; Lezius S; Kilian D; Van de Graaf B; Pagovich OE; Kosofsky B; Yohay K; Downs M; Slasor P; Ajayi T; Crystal RG; Kohlschütter A; Sondhi D; Schulz A
    Lancet Child Adolesc Health; 2018 Aug; 2(8):582-590. PubMed ID: 30119717
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis).
    Kohlschütter A; Schulz A
    Pediatr Endocrinol Rev; 2016 Jun; 13 Suppl 1():682-8. PubMed ID: 27491216
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.
    Lukacs Z; Nickel M; Murko S; Nieves Cobos P; Schulz A; Santer R; Kohlschütter A
    Clin Chim Acta; 2019 May; 492():69-71. PubMed ID: 30771299
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multifocal retinopathy in Dachshunds with CLN2 neuronal ceroid lipofuscinosis.
    Whiting RE; Pearce JW; Castaner LJ; Jensen CA; Katz RJ; Gilliam DH; Katz ML
    Exp Eye Res; 2015 May; 134():123-32. PubMed ID: 25697710
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.
    Lourenço CM; Pessoa A; Mendes CC; Rivera-Nieto C; Vergara D; Troncoso M; Gardner E; Mallorens F; Tavera L; Lizcano LA; Atanacio N; Guelbert N; Specola N; Mancilla N; de Souza CFM; Mole SE
    J Paediatr Child Health; 2021 Apr; 57(4):519-525. PubMed ID: 33377563
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome.
    Teede HJ; Misso ML; Costello MF; Dokras A; Laven J; Moran L; Piltonen T; Norman RJ;
    Hum Reprod; 2018 Sep; 33(9):1602-1618. PubMed ID: 30052961
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Therapeutic landscape for Batten disease: current treatments and future prospects.
    Johnson TB; Cain JT; White KA; Ramirez-Montealegre D; Pearce DA; Weimer JM
    Nat Rev Neurol; 2019 Mar; 15(3):161-178. PubMed ID: 30783219
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Investigating health-related quality of life in rare diseases: a case study in utility value determination for patients with CLN2 disease (neuronal ceroid lipofuscinosis type 2).
    Gissen P; Specchio N; Olaye A; Jain M; Butt T; Ghosh W; Ruban-Fell B; Griffiths A; Camp C; Sisic Z; Schwering C; Wibbeler E; Trivisano M; Lee L; Nickel M; Mortensen A; Schulz A
    Orphanet J Rare Dis; 2021 May; 16(1):217. PubMed ID: 33980287
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 24.