Literature DB >> 14280390

INBORN LYSOSOMAL DISEASES.

H G HERS.   

Abstract

Keywords:  GLYCOGENOSIS; LYSOSOMES; METABOLISM, INBORN ERRORS; REVIEW

Mesh：

Year:  1965        PMID： 14280390

Source DB:  PubMed          Journal:  Gastroenterology        ISSN： 0016-5085            Impact factor:   22.682


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  63 in total

Review 1.  Pathophysiology of neuropathic lysosomal storage disorders.

Authors:  Cinzia Maria Bellettato; Maurizio Scarpa
Journal:  J Inherit Metab Dis       Date:  2010-04-29       Impact factor: 4.982

2.  A history of mitochondrial diseases.

Authors:  Salvatore Dimauro
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

Review 3.  Fig4 deficiency: a newly emerged lysosomal storage disorder?

Authors:  Colin Martyn; Jun Li
Journal:  Prog Neurobiol       Date:  2012-11-16       Impact factor: 11.685

4.  Mitochondrial Diseases: A Clinical and Molecular History.

Authors:  Steven G Pavlakis; Michio Hirano
Journal:  Pediatr Neurol       Date:  2016-06-02       Impact factor: 3.372

5.  Enzyme replacement in a canine model of Hurler syndrome.

Authors:  R M Shull; E D Kakkis; M F McEntee; S A Kania; A J Jonas; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1994-12-20       Impact factor: 11.205

6.  Ultrastructural study of the liver in hepatic prophyria.

Authors:  G Jean; G Lambertenghi; T Ranzi
Journal:  J Clin Pathol       Date:  1968-07       Impact factor: 3.411

7.  Animal model of human disease: mannosidosis of children, other inherited lysosomal storage diseases.

Authors:  R D Jolly
Journal:  Am J Pathol       Date:  1974-01       Impact factor: 4.307

8.  Glaucoma in a case of Hurler disease.

Authors:  E Spellacy; J L Bankes; J Crow; R Dourmashkin; D Shah; R W Watts
Journal:  Br J Ophthalmol       Date:  1980-10       Impact factor: 4.638

Review 9.  Combination Therapies for Lysosomal Storage Diseases: A Complex Answer to a Simple Problem.

Authors:  Shannon L Macauley
Journal:  Pediatr Endocrinol Rev       Date:  2016-06

10.  Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activities.

Authors:  Yoshiyuki Suzuki; Seiichiro Ogawa; Yasubumi Sakakibara
Journal:  Perspect Medicin Chem       Date:  2009-05-26
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