Literature DB >> 15126978

Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.

William R Wilcox1.   

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Year:  2004        PMID: 15126978     DOI: 10.1016/j.jpeds.2004.01.049

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


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  28 in total

1.  Screening for lysosomal storage disorders--a clinical perspective.

Authors:  Janice M Fletcher
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

2.  An improved purification method for the lysosomal storage disease protein β-glucuronidase produced in CHO cells.

Authors:  Erica J Fratz-Berilla; Stephanie A Ketcham; Hamideh Parhiz; Muhammad Ashraf; Chikkathur N Madhavarao
Journal:  Protein Expr Purif       Date:  2017-07-19       Impact factor: 1.650

3.  The face of lysosomal storage disorders in India: a need for early diagnosis.

Authors:  Shruti Agarwal; Keya Lahiri; Mamta Muranjan; Nirmal Solanki
Journal:  Indian J Pediatr       Date:  2014-12-09       Impact factor: 1.967

4.  Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses.

Authors:  John Sowell; Tim Wood
Journal:  Anal Chim Acta       Date:  2010-12-07       Impact factor: 6.558

5.  Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease.

Authors:  Matthew J Elrick; Ting Yu; Chan Chung; Andrew P Lieberman
Journal:  Hum Mol Genet       Date:  2012-08-07       Impact factor: 6.150

Review 6.  Disease registries and outcomes research in children: focus on lysosomal storage disorders.

Authors:  Simon Jones; Emma James; Suyash Prasad
Journal:  Paediatr Drugs       Date:  2011-02-01       Impact factor: 3.022

Review 7.  The transformative potential of HSC gene therapy as a genetic medicine.

Authors:  Pervinder Sagoo; H Bobby Gaspar
Journal:  Gene Ther       Date:  2021-05-26       Impact factor: 5.250

8.  Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families.

Authors:  R Freedman; M Sahhar; L Curnow; J Lee; H Peters
Journal:  J Genet Couns       Date:  2013-03-28       Impact factor: 2.537

9.  Activation of membrane NADPH oxidase associated with lysosome-targeted acid sphingomyelinase in coronary endothelial cells.

Authors:  Jun-Xiang Bao; Si Jin; Fan Zhang; Zheng-Chao Wang; Ningjun Li; Pin-Lan Li
Journal:  Antioxid Redox Signal       Date:  2010-03-15       Impact factor: 8.401

Review 10.  Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Authors:  E I Parker; M Xing; A Moreno-De-Luca; E Harmouche; M R Terk
Journal:  Br J Radiol       Date:  2013-11-14       Impact factor: 3.039

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