A01=Steve Field
A01=Steve Hannigan
Acyl CoA Dehydrogenase
Acyl CoA Dehydrogenase Deficiency
Adenylosuccinate Lyase
Author_Steve Field
Author_Steve Hannigan
autosomal
Autosomal Recessive Fashion
Autosomal Recessive Manner
blood
Category=VFD
Chronic Progressive External Ophthalmoplegia
clinical genetics reference
CoA Dehydrogenase
Electron Transfer Flavoprotein
enzyme deficiency syndromes
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eq_health-lifestyle
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eq_isMigrated=2
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ETF
fashion
Fatty Acid Oxidation Disorders
Gaucher Disease Type
genetic metabolic pathways
Glucose Transporter Type
Hallervorden Spatz Syndrome
inherited metabolic disease management
Isovaleryl CoA
Kearns Sayre Syndrome
Leigh Syndrome
levels
low
manner
Medium Chain Acyl CoA Dehydrogenase
metabolic disorder diagnosis
Methylmalonic Acidaemia
Multiple Acyl CoA Dehydrogenase
newborn
Organic Acid Disorders
paediatric neurometabolic care
paediatric rare diseases
PANK2
Propionyl CoA Carboxylase
Pseudohypoaldosteronism Type
recessive
screening
Sucrase Isomaltase
sugar
UCDs
Product details
- ISBN 9781846190995
- Weight: 400g
- Dimensions: 305 x 152mm
- Publication Date: 20 Feb 2007
- Publisher: Taylor & Francis Ltd
- Publication City/Country: GB
- Product Form: Paperback
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Inherited Metabolic Diseases are common enough for health, social service and education professionals to encounter them periodically, but rare enough for them to be poorly understood. They severely affect up to 1 in 10,000 people, and lead to a wide range of special needs in care and education. This guide provides specialist information on metabolic diseases for the non-specialist. In a concise, accessible and family-friendly format, each entry lists the names by which a condition is known, and explains the genetic causes of the disease, the physical effects, the patient's symptoms, and available treatments. Key diseases from all ten major groups of metabolic disorders are described, and all entries have been reviewed by Specialist Advisers. The work has been coordinated by the charity Climb, Children Living with Inherited Metabolic Diseases. This uniquely comprehensive source of information is a vital reference for hospital doctors including paediatricians, general practitioners, nurses and other health professionals, social service and education staff and managers, and the families and carers of children with the conditions.
On behalf of the charity Children Living with Inherited Metabolic Diseases (CLIMB)
