東華大學圖書館 |

語系: 繁體中文

說明(常見問題)

回圖書館首頁

手機版館藏查詢

登入

回首頁 到查詢結果 [ subject:"Medical Genetics." ]

切換: 標籤 | MARC模式 | ISBD

Inborn metabolic diseases = diagnosi...

Saudubray, Jean-Marie.

FindBook

Google Book

Amazon

博客來

Inborn metabolic diseases = diagnosis and treatment /

紀錄類型:	書目-電子資源 : Monograph/item
正題名/作者:	Inborn metabolic diseases/ edited by Jean-Marie Saudubray ... [et al.].
其他題名:	diagnosis and treatment /
其他作者:	Saudubray, Jean-Marie.
出版者:	Berlin, Heidelberg :Springer Berlin Heidelberg : : 2022.,
面頁冊數:	xxxix, 894 p. :ill. (chiefly color), digital ;24 cm.
內容註:	I Diagnosis and treatment: General principles -- II Disorders of Energy Metabolism -- III Small Molecule Disorders -- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders -- Section V Appendices.
Contained By:	Springer Nature eBook
標題:	Metabolism, Inborn errors of. -
電子資源:	https://doi.org/10.1007/978-3-662-63123-2
ISBN:	9783662631232

Inborn metabolic diseases = diagnosis and treatment /
Inborn metabolic diseasesdiagnosis and treatment /[electronic resource] :edited by Jean-Marie Saudubray ... [et al.]. - Seventh edition. - Berlin, Heidelberg :Springer Berlin Heidelberg :2022. - xxxix, 894 p. :ill. (chiefly color), digital ;24 cm.

I Diagnosis and treatment: General principles -- II Disorders of Energy Metabolism -- III Small Molecule Disorders -- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders -- Section V Appendices.

This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. Contents A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking. The Editors Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris. Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich. Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona. John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.

ISBN: 9783662631232

Standard No.: 10.1007/978-3-662-63123-2doiSubjects--Topical Terms:

639903
Metabolism, Inborn errors of.

LC Class. No.: RC627.8 / .I53 2022

Dewey Class. No.: 616.39

Inborn metabolic diseases = diagnosis and treatment /
LDR:03193nmm a2200349 a 4500 001 2302178
003 DE-He213
005 20220624150908.0
006 m d
007 cr nn 008maaau
008 230409s2022 gw s 0 eng d
020 $a 9783662631232 $q (electronic bk.)
020 $a 9783662631225 $q (paper)
024 7 $a 10.1007/978-3-662-63123-2 $2 doi
035 $a 978-3-662-63123-2
040 $a GP $c GP
041 0 $a eng
050 4 $a RC627.8 $b .I53 2022
072 7 $a MJW $2 bicssc
072 7 $a MED069000 $2 bisacsh
072 7 $a MKD $2 thema
082 0 4 $a 616.39 $2 23
090 $a RC627.8 $b .I35 2022
245 0 0 $a Inborn metabolic diseases $h [electronic resource] : $b diagnosis and treatment / $c edited by Jean-Marie Saudubray ... [et al.].
250 $a Seventh edition.
260 $a Berlin, Heidelberg : $b Springer Berlin Heidelberg : $b Imprint: Springer, $c 2022.
300 $a xxxix, 894 p. : $b ill. (chiefly color), digital ; $c 24 cm.
338 $a online resource $b cr $2 rdacarrier
505 0 $a I Diagnosis and treatment: General principles -- II Disorders of Energy Metabolism -- III Small Molecule Disorders -- Section IV Complex Molecule Disorders and Cellular Trafficking Disorders -- Section V Appendices.
520 $a This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD. Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers. Contents A clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. Separate, comprehensive sections on IMD classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques. Two new chapters, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking. The Editors Jean-Marie Saudubray, M.D., Senior Editor, is Emeritus Professor of Paediatrics, Paris. Matthias R. Baumgartner, M.D., is Professor of Paediatrics and Inherited Metabolic Diseases, University of Zurich, and Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children's Hospital, Zurich. Angeles García-Cazorla MD, PhD., is Professor of Paediatric Neurology and Head of the Neurometabolic Unit and Director of Research in Neurology at Hospital Sant Joan de Déu, Barcelona. John H. Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Developmental Biology and Medicine, School of Medical Sciences, University of Manchester.
650 0 $a Metabolism, Inborn errors of. $3 639903
650 1 4 $a Pediatrics. $3 559143
650 2 4 $a Medical Genetics. $3 3531302
650 2 4 $a Internal Medicine. $3 858559
650 2 4 $a Neurology. $3 588698
700 1 $a Saudubray, Jean-Marie. $3 1566793
710 2 $a SpringerLink (Online service) $3 836513
773 0 $t Springer Nature eBook
856 4 0 $u https://doi.org/10.1007/978-3-662-63123-2
950 $a Medicine (SpringerNature-11650)