Literature DB >> 11182930

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.

C E Beesley, E P Young, A Vellodi, B G Winchester.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2000        PMID： 11182930      PMCID： PMC1734705          DOI： 10.1136/jmg.37.9.704

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  11 in total

1.  Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.

Authors:  Mehdi Shafaat; Mehrdad Hashemi; Ahmad Majd; Maryam Abiri; Sirous Zeinali
Journal:  Metab Brain Dis       Date:  2019-06-24       Impact factor: 3.584

2.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

3.  Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.

Authors:  Min-Sun Kim; Aram Yang; Eu-Seon Noh; Chiwoo Kim; Ga Young Bae; Han Hyuk Lim; Hyung-Doo Park; Sung Yoon Cho; Dong-Kyu Jin
Journal:  J Pers Med       Date:  2022-04-21

4.  Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology.

Authors:  David E Sleat; Lin Ding; Shudan Wang; Caifeng Zhao; Yanhong Wang; Winnie Xin; Haiyan Zheng; Dirk F Moore; Katherine B Sims; Peter Lobel
Journal:  Mol Cell Proteomics       Date:  2009-04-20       Impact factor: 5.911

Review 5.  Sanfilippo syndrome: a mini-review.

Authors:  M J Valstar; G J G Ruijter; O P van Diggelen; B J Poorthuis; F A Wijburg
Journal:  J Inherit Metab Dis       Date:  2008-04-04       Impact factor: 4.982

6.  Natural history of Sanfilippo syndrome in Spain.

Authors:  Verónica Delgadillo; Maria del Mar O'Callaghan; Laura Gort; Maria Josep Coll; Mercedes Pineda
Journal:  Orphanet J Rare Dis       Date:  2013-12-06       Impact factor: 4.123

7.  A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).

Authors:  Krastyu G Ugrinov; Stefan D Freed; Clayton L Thomas; Shaun W Lee
Journal:  PLoS One       Date:  2015-03-25       Impact factor: 3.240

8.  Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.

Authors:  Erlane Marques Ribeiro; Ana Carolina Brusius-Facchin; Sandra Leistner-Segal; Carlos Antônio Bruno da Silva; Ida Vanessa Schwartz
Journal:  Mol Genet Metab Rep       Date:  2014-09-29

9.  Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

Authors:  Navdeep S Sidhu; Kathrin Schreiber; Kevin Pröpper; Stefan Becker; Isabel Usón; George M Sheldrick; Jutta Gärtner; Ralph Krätzner; Robert Steinfeld
Journal:  Acta Crystallogr D Biol Crystallogr       Date:  2014-04-30

10.  The attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype.

Authors:  Stephanie C M Nijmeijer; L Ingeborg van den Born; Anneke J A Kievit; Karolina M Stepien; Janneke Langendonk; Jan Pieter Marchal; Susanne Roosing; Frits A Wijburg; Margreet A E M Wagenmakers
Journal:  Orphanet J Rare Dis       Date:  2019-11-12       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.