Homocystinuria PDF Download

Author: G. H. J. Boers
Publisher: Walter de Gruyter GmbH & Co KG
ISBN: 3110851733
Category : Medical
Languages : en
Pages : 176

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Book Description
No detailed description available for "Homocystinuria".

Author: K. Robinson
Publisher: Springer Science & Business Media
ISBN: 9780792362487
Category : Medical
Languages : en
Pages : 480

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Book Description
This state-of-the-art review provides an in-depth and critical summary of homocysteine from its molecular basis to clinical relevance and current clinical trials of folic acid and vitamin B6. Written by leading workers in the field, the book provides an authoritative, comprehensive and thoroughly up-to-date overview for scientists and clinicians and any others engaged in the field. It will also be useful to anyone involved in managing vascular patients or cardiac risk factors, as well as biochemists, pharmacologists, general physicians, cardiologists and clinical and basic researchers with an interest in preventive medicine.

Author: N. Blau
Publisher: Springer Science & Business Media
ISBN: 364255878X
Category : Science
Languages : en
Pages : 732

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Book Description
This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.

Author: Charles R. Scriver
Publisher: New York ; Montreal : McGraw-Hill
ISBN: 9780071363198
Category : Genetic disorders
Languages : en
Pages : 6338

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Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Author: Ralph Carmel
Publisher: Cambridge University Press
ISBN: 9780521653190
Category : Medical
Languages : en
Pages : 558

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Book Description
This is an unusually comprehensive 2001 account of the broad range of medical implications of homocysteine.

Author: Jess G. Thoene
Publisher: Cambridge University Press
ISBN: 1139490761
Category : Medical
Languages : en
Pages :

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Book Description
Thoene summarises the substantial work that has been accomplished in the treatment of inborn errors of metabolism with simple molecules. This handbook will enable interested clinician scientists to rapidly survey the field, thus ascertaining what has been done as well as future directions for therapeutic research. Its important introductory chapters discuss the infrastructure of the field. The book closely analyses the cofactors used to augment the function of defective enzymes and the compounds that are able to utilise an alternative pathway in order to avoid the consequences of the metabolic block present in the patient. Among other therapies, the authors discuss the use of zinc and tetrathiomolybdate to treat Wilson's disease and the use of cysteamine to treat nephropathic cystinosis.

Author: Carla E. M. Hollak
Publisher: Oxford University Press
ISBN: 0199972133
Category : Medical
Languages : en
Pages : 657

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Book Description
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Author: Flemming Skovby
Publisher:
ISBN:
Category : Homocystinuria
Languages : en
Pages : 36

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Book Description

Author: David J. Vance
Publisher:
ISBN: 9780987146960
Category : Cystathionine beta-synthase
Languages : en
Pages : 171

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Book Description

Author: Laurie E. Bernstein
Publisher: Springer
ISBN: 3319146211
Category : Medical
Languages : en
Pages : 363

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Book Description
This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.