343 related articles for article (PubMed ID: 29310675)
1. Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.
Kuiper GA; Meijer OLM; Langereis EJ; Wijburg FA
Orphanet J Rare Dis; 2018 Jan; 13(1):2. PubMed ID: 29310675
[TBL] [Abstract][Full Text] [Related]
2. Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening.
de Ru MH; Bouwman MG; Wijburg FA; van Zwieten MC
Mol Genet Metab; 2012 Nov; 107(3):501-7. PubMed ID: 22926196
[TBL] [Abstract][Full Text] [Related]
3. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
de Ruijter J; de Ru MH; Wagemans T; Ijlst L; Lund AM; Orchard PJ; Schaefer GB; Wijburg FA; van Vlies N
Mol Genet Metab; 2012 Dec; 107(4):705-10. PubMed ID: 23084433
[TBL] [Abstract][Full Text] [Related]
4. Open issues in Mucopolysaccharidosis type I-Hurler.
Parini R; Deodato F; Di Rocco M; Lanino E; Locatelli F; Messina C; Rovelli A; Scarpa M
Orphanet J Rare Dis; 2017 Jun; 12(1):112. PubMed ID: 28619065
[TBL] [Abstract][Full Text] [Related]
5. Early disease progression of Hurler syndrome.
Kiely BT; Kohler JL; Coletti HY; Poe MD; Escolar ML
Orphanet J Rare Dis; 2017 Feb; 12(1):32. PubMed ID: 28193245
[TBL] [Abstract][Full Text] [Related]
6. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.
Oussoren E; Keulemans J; van Diggelen OP; Oemardien LF; Timmermans RG; van der Ploeg AT; Ruijter GJ
Mol Genet Metab; 2013 Aug; 109(4):377-81. PubMed ID: 23786846
[TBL] [Abstract][Full Text] [Related]
7. The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.
Nijmeijer SCM; van den Born LI; Kievit AJA; Stepien KM; Langendonk J; Marchal JP; Roosing S; Wijburg FA; Wagenmakers MAEM
Orphanet J Rare Dis; 2019 Nov; 14(1):249. PubMed ID: 31718697
[TBL] [Abstract][Full Text] [Related]
8. Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.
Murgasova L; Jurovcik M; Jesina P; Malinova V; Bloomfield M; Zeman J; Magner M
Int J Pediatr Otorhinolaryngol; 2020 Aug; 135():110137. PubMed ID: 32502916
[TBL] [Abstract][Full Text] [Related]
9. Combined Hurler and Sanfilippo syndrome in a sibling pair.
Sun A; Hopwood JJ; Thompson J; Cederbaum SD
Mol Genet Metab; 2011 Jun; 103(2):135-7. PubMed ID: 21393040
[TBL] [Abstract][Full Text] [Related]
10. Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media.
Yodoshi T; Hurt TL
BMJ Case Rep; 2018 Jul; 2018():. PubMed ID: 30049674
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.
D'Aco K; Underhill L; Rangachari L; Arn P; Cox GF; Giugliani R; Okuyama T; Wijburg F; Kaplan P
Eur J Pediatr; 2012 Jun; 171(6):911-9. PubMed ID: 22234477
[TBL] [Abstract][Full Text] [Related]
12. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.
Bodamer OA; Giugliani R; Wood T
Mol Genet Metab; 2014; 113(1-2):34-41. PubMed ID: 25127543
[TBL] [Abstract][Full Text] [Related]
13. Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.
Tylki-Szymańska A; De Meirleir L; Di Rocco M; Fathalla WM; Guffon N; Lampe C; Lund AM; Parini R; Wijburg FA; Zeman J; Scarpa M
Acta Paediatr; 2018 Aug; 107(8):1402-1408. PubMed ID: 29797470
[TBL] [Abstract][Full Text] [Related]
14. Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).
Somanadhan S; Larkin PJ
Orphanet J Rare Dis; 2016 Oct; 11(1):138. PubMed ID: 27724940
[TBL] [Abstract][Full Text] [Related]
15. The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey.
Mengel E; Gaedeke J; Gothe H; Krupka S; Lachmann A; Reinke J; Ohlmeier C
PLoS One; 2020; 15(12):e0244279. PubMed ID: 33382737
[TBL] [Abstract][Full Text] [Related]
16. MPS I: Early diagnosis, bone disease and treatment, where are we now?
Kingma SDK; Jonckheere AI
J Inherit Metab Dis; 2021 Nov; 44(6):1289-1310. PubMed ID: 34480380
[TBL] [Abstract][Full Text] [Related]
17. Attenuated type I mucopolysaccharidosis in the differential diagnosis of juvenile idiopathic arthritis: a series of 13 patients with Scheie syndrome.
Cimaz R; Vijay S; Haase C; Coppa GV; Bruni S; Wraith E; Guffon N
Clin Exp Rheumatol; 2006; 24(2):196-202. PubMed ID: 16762159
[TBL] [Abstract][Full Text] [Related]
18. Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.
Viskochil D; Muenzer J; Guffon N; Garin C; Munoz-Rojas MV; Moy KA; Hutchinson DT
Dev Med Child Neurol; 2017 Dec; 59(12):1269-1275. PubMed ID: 28892147
[TBL] [Abstract][Full Text] [Related]
19. International working group identifies need for newborn screening for mucopolysaccharidosis type I but states that existing hurdles must be overcome.
Parini R; Broomfield A; Cleary MA; De Meirleir L; Di Rocco M; Fathalla WM; Guffon N; Lampe C; Lund AM; Scarpa M; Tylki-Szymańska A; Zeman J
Acta Paediatr; 2018 Dec; 107(12):2059-2065. PubMed ID: 30242902
[TBL] [Abstract][Full Text] [Related]
20. Evaluation of heparin cofactor II-thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice.
Langford-Smith K; Arasaradnam M; Wraith JE; Wynn R; Bigger BW
Mol Genet Metab; 2010 Mar; 99(3):269-74. PubMed ID: 19926322
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
