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storage diseases

Overview page. Subjects: Medicine and Health.

Diseases in which there is a deficiency of a lysosomal enzyme and undigested substrate for that enzyme accumulates within cells. The storage diseases are not immediately fatal, but within a...

See overview in Oxford Index

storage diseases

John Lackie.

in A Dictionary of Biomedicine

January 2010; p ublished online January 2010 .

Reference Entry. Subjects: Clinical Medicine. 122 words.

Diseases in which there is a deficiency of a lysosomal enzyme and undigested substrate for that enzyme accumulates within cells. The storage diseases are not immediately fatal, but within a...

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storage diseases

Overview page. Subjects: Medicine and Health.

Diseases in which there is a deficiency of a lysosomal enzyme and undigested substrate for that enzyme accumulates within cells. The storage diseases are not immediately fatal, but within a...

See overview in Oxford Index

glycogen storage diseases

John Lackie.

in A Dictionary of Biomedicine

January 2010; p ublished online January 2010 .

Reference Entry. Subjects: Clinical Medicine. 210 words.

A range of *storage diseases caused by mutations in genes required for glycogen metabolism or its regulation. Type 0...

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lysosomal storage diseases

Robert C. King, William D. Stansfield and Pamela K. Mulligan.

in A Dictionary of Genetics

January 2007; p ublished online January 2007 .

Reference Entry. Subjects: Genetics and Genomics. 81 words.

hereditary diseases characterized by abnormal lipid storage due to defects in lysosomal enzymes. The accumulation of the trapped intermediates of

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lysosomal storage diseases

Robert C. King, Pamela K. Mulligan and William D. Stansfield.

in A Dictionary of Genetics

January 2013; p ublished online January 2014 .

Reference Entry. Subjects: Genetics and Genomics. 81 words.

hereditary diseases characterized by abnormal lipid storage due to defects in lysosomal enzymes. The accumulation of the trapped intermediates of

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lysosomal storage disease

Overview page. Subjects: Genetics and Genomics — Chemistry.

Hereditary diseases characterized by abnormal lipid storage due to defects in lysosomal enzymes. The accumulation of the trapped intermediates of catabolism results in the cytoplasmic...

See overview in Oxford Index

Glycogen Storage Diseases

Mari Mori and Priya Kishnani.

in Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders

April 2017; p ublished online April 2017 .

Chapter. Subjects: Public Health and Epidemiology. 4539 words.

This chapter discusses glycogen storage disease types I and III, including biochemical abnormalities and manifestations, factors to be considered in nutritional evaluation, dietary...

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Lysosomal glycosphingolipid storage diseases

Thomas Kolter and Konrad Sandhoff.

in Neuroglycobiology

July 2005; p ublished online September 2009 .

Chapter. Subjects: Neuroscience. 10988 words.

This chapter focuses on the catabolism of glycolipids and diseases caused by anomalies in this process. Topics covered include lysosomal storage diseases, glycosphingolipids, mechanism of...

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Cholesteryl Ester Storage Disease

Carla E. M. Hollak.

in Inherited Metabolic Disease in Adults

July 2016; p ublished online September 2016 .

Chapter. Subjects: Clinical Genetics. 2717 words.

Cholesteryl ester storage disease is a very rare lysosomal storage disorder that may present in an attenuated form in adult patients. This clinical phenotype is clearly distinguished from...

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Glycogen Storage Diseases

Tammy Wang, Jocelyn Wong and Anita Honkanen.

in Pediatric Anesthesia: A Problem-Based Learning Approach

October 2018; p ublished online October 2018 .

Chapter. Subjects: Anaesthetics. 5822 words.

Glycogen storage diseases result from deficiencies of various enzymes or proteins in the pathways of glycogen metabolism. The reduction in effective glucose storage and/or mobilization...

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Glycogen storage diseases

Philip Lee and Kaustuv Bhattacharya.

in Oxford Textbook of Medicine

May 2010; p ublished online November 2013 .

Chapter. Subjects: Clinical Medicine. 6136 words.

Glycogen metabolism is regulated by a number of different enzymes, defects in any of which result in several types of glycogen storage disease.

Types I, III, VI, and IX have...

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Lysosomal Storage Diseases and Therapies

Moyra Smith.

in Seeking Cures

September 2013; p ublished online August 2014 .

Chapter. Subjects: Clinical Genetics. 3774 words.

Lysosomal storage diseases have traditionally been classified according to the type of material that accumulates in lysosomes in abnormal levels. In this chapter examples of progress in...

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Dysostosis Multiplex: Complex Carbohydrate Storage Diseases

Jürgen W. Spranger, Paula W. Brill, Gen Nishimura, Andrea Superti-Furga and Sheila Unger.

in Bone Dysplasias

September 2012; p ublished online November 2013 .

Chapter. Subjects: Clinical Genetics; Clinical Radiology. 8532 words.

Chapter 132 covers disorders of the dysostosis multiplex: complex carbohydrate storage disease group (mucopolysaccharidosis I-H (MIM 607014, 252800), mucopolysaccharidosis I-H variants (MIM...

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Spontaneous and engineered mammalian storage disease models

John J. Hopwood, Allison C. Crawley and Rosanne M. Taylor.

in Lysosomal Disorders of the Brain

February 2004; p ublished online September 2009 .

Chapter. Subjects: Neuroscience. 16801 words.

Lysosomal storage disorders are inherited disorders of lysosomal organelle dysfunction. The relative rarity of storage diseases, their broad heterogeneous clinical presentation, and varied...

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The heart in inherited metabolic disorders: lysosomal and glycogen storage diseases

Ales Linhart.

in The ESC Textbook of Cardiovascular Medicine

December 2018; p ublished online July 2018 .

Chapter. Subjects: Cardiovascular Medicine. 4847 words.

Lysosomal storage diseases (LSDs) represent a large and heterogeneous group of rare inherited disorders caused by a defective function of one of the lysosomal acid hydrolases, their...

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Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases

Cynthia J. Tifft and Richard L. Proia.

in Glycobiology

December 2000; p ublished online December 2000 .

Journal Article. Subjects: Carbohydrates. 7144 words.

Glycosphingolipids (GSLs) are plasma membrane components of every eukaryotic cell. They are composed of a hydrophobic ceramide moiety linked to a glycan chain of variable length and...

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Psychosocial Functioning in Youth with Glycogen Storage Disease Type I

Eric Storch, Mary Keeley, Lisa Merlo, Marni Jacob, Catherine Correia and David Weinstein.

in Journal of Pediatric Psychology

August 2008; p ublished online February 2008 .

Journal Article. Subjects: Child and Adolescent Psychiatry; Psychology. 6855 words.

Objective To assess the quality of life and psychosocial functioning among pediatric patients with Glycogen Storage Disease (GSD) types Ia and Ib. Methods Thirty-one youth with...

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Liver-directed gene therapy for murine glycogen storage disease type Ib

Joon Hyun Kwon, Young Mok Lee, Jun-Ho Cho, Goo-Young Kim, Javier Anduaga, Matthew F Starost, Brian C Mansfield and Janice Y Chou.

in Human Molecular Genetics

November 2017; p ublished online August 2017 .

Journal Article. Subjects: Genetics and Genomics. 7273 words.

Abstract

Glycogen storage disease type-Ib (GSD-Ib), deficient in the glucose-6-phosphate transporter (G6PT), is characterized by impaired glucose homeostasis,...

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AA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease

Jonathan Dick, Nicola Kumar, Catherine Horsfield and Satish Jayawardene.

in Clinical Kidney Journal

December 2012; p ublished online November 2012 .

Journal Article. Subjects: Nephrology. 1228 words.

Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter. We present the case of a 40-year-old male...

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Inhibition of substrate synthesis: a pharmacological approach for glycosphingolipid storage disease therapy

Frances M. Platt and Terry D. Butters.

in Lysosomal Disorders of the Brain

February 2004; p ublished online September 2009 .

Chapter. Subjects: Neuroscience. 14465 words.

The neuronopathic lysosomal storage diseases are not currently amenable to therapy due to the difficulties of delivering functional enzyme/protein to the brain. Over two decades ago, an...

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