381 related articles for article (PubMed ID: 25599668)
1. Diagnosing lysosomal storage disorders: mucopolysaccharidosis type I.
Johnson BA; Dajnoki A; Bodamer OA
Curr Protoc Hum Genet; 2015 Jan; 84():17.17.1-17.17.8. PubMed ID: 25599668
[TBL] [Abstract][Full Text] [Related]
2. Mucopolysaccharidosis type I.
Wraith JE; Jones S
Pediatr Endocrinol Rev; 2014 Sep; 12 Suppl 1():102-6. PubMed ID: 25345091
[TBL] [Abstract][Full Text] [Related]
3. c.1898C>G/p.Ser633Trp Mutation in Alpha-L-Iduronidase: Clinical and Structural Implications.
Peña-Gomar I; Jiménez-Mariscal JL; Cerón M; Rosas-Trigueros J; Reyes-López CA
Protein J; 2021 Feb; 40(1):68-77. PubMed ID: 33389473
[TBL] [Abstract][Full Text] [Related]
4. The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.
Taylor JL; Clinard K; Powell CM; Rehder C; Young SP; Bali D; Beckloff SE; Gehtland LM; Kemper AR; Lee S; Millington D; Patel HS; Shone SM; Woodell C; Zimmerman SJ; Bailey DB; Muenzer J
J Pediatr; 2019 Aug; 211():193-200.e2. PubMed ID: 31133280
[TBL] [Abstract][Full Text] [Related]
5. Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Yogalingam G; Guo XH; Muller VJ; Brooks DA; Clements PR; Kakkis ED; Hopwood JJ
Hum Mutat; 2004 Sep; 24(3):199-207. PubMed ID: 15300847
[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. Identification of mucopolysaccharidosis I heterozygotes based on biochemical characteristics of L-iduronidase from dried blood spots.
Campos D; Monaga M; González EC; Herrera D
Clin Chim Acta; 2014 Mar; 430():24-7. PubMed ID: 24389097
[TBL] [Abstract][Full Text] [Related]
8. Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan.
Chuang CK; Lin HY; Wang TJ; Huang YH; Chan MJ; Liao HC; Lo YT; Wang LY; Tu RY; Fang YY; Chen TL; Ho HC; Chiang CC; Lin SP
Orphanet J Rare Dis; 2018 May; 13(1):84. PubMed ID: 29801497
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I.
Ombrone D; Malvagia S; Funghini S; Giocaliere E; Della Bona ML; Forni G; De Luca A; Villanelli F; Casetta B; Guerrini R; la Marca G
Eur J Mass Spectrom (Chichester); 2013; 19(6):497-503. PubMed ID: 24378468
[TBL] [Abstract][Full Text] [Related]
11. A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.
Gucciardi A; Legnini E; Di Gangi IM; Corbetta C; Tomanin R; Scarpa M; Giordano G
Biomed Chromatogr; 2014 Aug; 28(8):1131-9. PubMed ID: 24449175
[TBL] [Abstract][Full Text] [Related]
12. Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.
Chan MJ; Liao HC; Gelb MH; Chuang CK; Liu MY; Chen HJ; Kao SM; Lin HY; Huang YH; Kumar AB; Chennamaneni NK; Pendem N; Lin SP; Chiang CC
J Pediatr; 2019 Feb; 205():176-182. PubMed ID: 30409495
[TBL] [Abstract][Full Text] [Related]
13. Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation.
Wang D; Shukla C; Liu X; Schoeb TR; Clarke LA; Bedwell DM; Keeling KM
Mol Genet Metab; 2010 Jan; 99(1):62-71. PubMed ID: 19751987
[TBL] [Abstract][Full Text] [Related]
14. The combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
Polo G; Gueraldi D; Giuliani A; Rubert L; Cazzorla C; Salviati L; Marzollo A; Biffi A; Burlina AP; Burlina AB
Clin Chem Lab Med; 2020 Nov; 58(12):2063-2072. PubMed ID: 32432561
[TBL] [Abstract][Full Text] [Related]
15. Molecular genetic defect underlying alpha-L-iduronidase pseudodeficiency.
Aronovich EL; Pan D; Whitley CB
Am J Hum Genet; 1996 Jan; 58(1):75-85. PubMed ID: 8554071
[TBL] [Abstract][Full Text] [Related]
16. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S; Buroker N; Cournoyer JJ; Potier AM; Trometer JD; Elbin C; Schermer MJ; Kantola J; Boyce A; Turecek F; Gelb MH; Scott CR
Mol Genet Metab; 2016 Aug; 118(4):304-9. PubMed ID: 27238910
[TBL] [Abstract][Full Text] [Related]
17. A simple and rapid method based on liquid chromatography-tandem mass spectrometry for the measurement of α-L-iduronidase activity in dried blood spots: an application to mucopolysaccharidosis I (Hurler) screening.
Yang JS; Min HK; Oh HJ; Woo HI; Lee SY; Kim JW; Song J; Park HD
Ann Lab Med; 2015 Jan; 35(1):41-9. PubMed ID: 25553279
[TBL] [Abstract][Full Text] [Related]
18. First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.
Fillman T; Matteson J; Tang H; Mathur D; Zahedi R; Sen I; Bishop T; Neogi P; Feuchtbaum L; Olney RS; Sciortino S
J Pediatr; 2023 Dec; 263():113644. PubMed ID: 37516270
[TBL] [Abstract][Full Text] [Related]
19. Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I.
Tomatsu S; Montaño AM; Oguma T; Dung VC; Oikawa H; de Carvalho TG; Gutiérrez ML; Yamaguchi S; Suzuki Y; Fukushi M; Sakura N; Barrera L; Kida K; Kubota M; Orii T
J Inherit Metab Dis; 2010 Apr; 33(2):141-50. PubMed ID: 20162367
[TBL] [Abstract][Full Text] [Related]
20. p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L; Ketudat-Cairns JR; Sawangareetrakul P; Charoenwattanasatien R; Champattanachai V; Kuptanon C; Pangkanon S; Tim-Aroon T; Wattanasirichaigoon D; Svasti J
Ann Hum Genet; 2018 May; 82(3):150-157. PubMed ID: 29282708
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
