Literature DB >> 29478001

Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis.

Partha Pratim Chakraborty1, Shinjan Patra1, Sugata Narayan Biswas1, Himanshu Barman1.   

Abstract

Entities:  

Keywords:  general practice / family medicine; metabolic disorders; orthopaedics

Mesh：

Year:  2018        PMID： 29478001      PMCID： PMC5848017          DOI： 10.1136/bcr-2018-224392

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  3 in total

1.  Detection by Urinary GAG Testing of Mucopolysaccharidosis Type II in an At-Risk Spanish Population.

Authors:  Laura López-Marín; Luis G Gutiérrez-Solana; Luis Aldamiz-Echevarria Azuara; Rogelio Simón de Las Heras; Anna Duat Rodríguez; Verónica Cantarín Extremera
Journal:  JIMD Rep       Date:  2013-02-02

2.  Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome.

Authors:  Ashley L Lukefahr; Maria Proytcheva
Journal:  J Pediatr Hematol Oncol       Date:  2018-01       Impact factor: 1.289

3.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797
  3 in total

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