Neonatal screening for inborn errors of metabolism, 

Автор: Houser
Название: Pediatric Genetics and Inborn Errors of Metabolism
ISBN: 1493905805 ISBN-13(EAN): 9781493905805
Издательство: Springer
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Цена: 8384.00 р.
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Описание: As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it.

Автор: Kyriakie Sarafoglou, Georg Hoffmann, Karl Roth
Название: Pediatric Endocrinology And Inborn Errors Of Metabolism 2008
ISBN: 0071439153 ISBN-13(EAN): 9780071439152
Издательство: McGraw-Hill
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Описание: Provides guidance on the diagnosis and management of endocrine and metabolic disorders in children. This book offers coverage of the principles of assessing signs and symptoms, clinical reviews, and direction on laboratory tests.

Автор: F. Cockburn
Название: Inborn Errors of Metabolism in Humans
ISBN: 9400973276 ISBN-13(EAN): 9789400973275
Издательство: Springer
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Цена: 12157.00 р.
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Описание: The five case studies from Belize, Mauritania, Samoa, Philippines and Japan were prepared as part of a set of 16 studies gathering national experiences from around the world. The studies are intended to ground the FAO `Technical Guidelines on Marine Protected Areas (MPAs)` and `Fisheries` in practical experience and to inform the use of MPAs globally.

Автор: J.B. Holton; J.T. Ireland
Название: Inborn Errors of Skin, Hair and Connective Tissue
ISBN: 940116617X ISBN-13(EAN): 9789401166171
Издательство: Springer
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Цена: 6986.00 р.
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Описание: Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. The bringing together of workers of many disciplines to contribute to the particular subject under discussion at our Symposia has always been an important objective of the Society.

Автор: F. G?ttler; J.W.T. Seakins; R. Angus Harkness
Название: Inborn Errors of Immunity and Phagocytosis
ISBN: 9401161992 ISBN-13(EAN): 9789401161992
Издательство: Springer
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Цена: 6986.00 р.
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Описание: In view of this and the steady advance of clinical and biochemical investigation of the polymorphonuclear neutrophil phago cyte, it appeared timely to review the inborn errors of immunity and phagocytosis at the fifteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism at Elsinore, Denmark on September II-14th, I~77.

Автор: R.J. Pollitt; A.H. van Gennip; C.J. de Groot; G.M.
Название: Inborn Errors of Cellular Organelles: Peroxisomes and Mitochondria
ISBN: 9401079277 ISBN-13(EAN): 9789401079273
Издательство: Springer
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Цена: 16769.00 р.
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Описание: Proceedings of the 24th Annual Symposium of the SSIEM held in Amersfoort, the Netherlands, September 1986.

Автор: Jean-Marie Saudubray; Matthias R. Baumgartner; Joh
Название: Inborn Metabolic Diseases
ISBN: 3662497697 ISBN-13(EAN): 9783662497692
Издательство: Springer
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Цена: 25155.00 р.
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Описание: This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.

Автор: Fernandes
Название: Inborn Metabolic Diseases
ISBN: 3540287833 ISBN-13(EAN): 9783540287834
Издательство: Springer
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Цена: 21655.00 р.
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Описание: Emphasises clinical presentation and treatment in acute and chronic situation. This book contains a chapter on Neonatal screening by tandem MS/MS and includes several groups of disorders. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables.