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Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.
Scott CR, Elliott S, Hong X, Huang JY, Kumar AB, Yi F, Pendem N, Chennamaneni NK, Gelb MH. Scott CR, et al. J Pediatr. 2020 Jan;216:204-207. doi: 10.1016/j.jpeds.2019.09.036. Epub 2019 Nov 12. J Pediatr. 2020. PMID: 31732130 Free PMC article.
OBJECTIVE: To test, in a newborn screening (NBS) laboratory, the performance of liquid chromatography-tandem mass spectrometry (LC-MS/MS) to assay 5 enzymatic activities in dried blood spots (DBS) for NBS of 5 lysosomal storage diseases (mucopolysaccharidosis [MPS]- …
OBJECTIVE: To test, in a newborn screening (NBS) laboratory, the performance of liquid chromatography-tandem mass spectrometry (LC-MS/MS) to …
Correlation of MR imaging and MR spectroscopy findings with cognitive impairment in mucopolysaccharidosis II.
Vedolin L, Schwartz IV, Komlos M, Schuch A, Puga AC, Pinto LL, Pires AP, Giugliani R. Vedolin L, et al. AJNR Am J Neuroradiol. 2007 Jun-Jul;28(6):1029-33. doi: 10.3174/ajnr.A0510. AJNR Am J Neuroradiol. 2007. PMID: 17569950 Free PMC article.
BACKGROUND AND PURPOSE: There are no reliable markers to predict neurologic outcome of patients with mucopolysaccharidosis (MPS) II. We hypothesized that brain MR imaging and MR spectroscopy are useful in depicting features related to cognitive impairment (CI …
BACKGROUND AND PURPOSE: There are no reliable markers to predict neurologic outcome of patients with mucopolysaccharidosis (MPS …
High-Throughput Liquid Chromatography-Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II.
Wang J, Bhalla A, Ullman JC, Fang M, Ravi R, Arguello A, Thomsen E, Tsogtbaatar B, Guo JL, Skuja LL, Dugas JC, Davis SS, Poda SB, Gunasekaran K, Costanzo S, Sweeney ZK, Henry AG, Harris JM, Henne KR, Astarita G. Wang J, et al. Int J Mol Sci. 2020 Jul 30;21(15):5449. doi: 10.3390/ijms21155449. Int J Mol Sci. 2020. PMID: 32751752 Free PMC article.
We recently developed a blood-brain barrier (BBB)-penetrating enzyme transport vehicle (ETV) fused to the lysosomal enzyme iduronate 2-sulfatase (ETV:IDS) and demonstrated its ability to reduce glycosaminoglycan (GAG) accumulation in the brains of a mouse model of mucopolysacc …
We recently developed a blood-brain barrier (BBB)-penetrating enzyme transport vehicle (ETV) fused to the lysosomal enzyme iduronate 2-sulfa …
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T. Sofronova V, et al. Int J Mol Sci. 2023 Mar 15;24(6):5647. doi: 10.3390/ijms24065647. Int J Mol Sci. 2023. PMID: 36982718 Free PMC article.
We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmented streaks along Blaschko's lines. ...
We report a case of an eight-year-old boy with mucopolysaccharidosis (MPS) II with atypical skin lesions of hyperpigmen …