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Inborn metabolic diseases :diagnosis and treatment /
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Inborn metabolic diseases :diagnosis and treatment /

紀錄類型 : 書目-語言資料,印刷品: 單行本

其他作者 : Saudubray, J. M.

出版項 : Berlin, Germany :Springer,[2022]

面頁冊數 : xxxix, 894 pages :color illustrations ;29 cm

簡介 : 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.

標題 : Metabolism, Inborn Errors - therapy -

版本 : Seventh edition.

ISBN : 9783662631225

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245 00$aInborn metabolic diseases :$bdiagnosis and treatment /$cJean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John H. Walter, editors.

250 $aSeventh edition.

264 1$aBerlin, Germany :$bSpringer,$c[2022]

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300 $axxxix, 894 pages :$bcolor illustrations ;$c29 cm

336 $atext$btxt$2rdacontent

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338 $avolume$bnc$2rdacarrier

504 $aIncludes bibliographical references and index.

520 $aThis 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.

650 22$aMetabolism, Inborn Errors$xtherapy$373826

700 1 $aSaudubray, J. M.$q(Jean-Marie),$d1937-$eeditor.$385234

700 1 $aBaumgartner, Matthias R.,$eeditor.$385235

700 1 $aGarcía-Cazorla, Ángeles,$eeditor.$385236

700 1 $aWalter, John$q(John Hugh),$eeditor.$385237

Inborn metabolic diseases :diagnosis and treatment /Jean-Marie Saudubray, Matthias R. Baumgartner, Ángeles García-Cazorla, John H. Walter, editors. - Seventh edition. - xxxix, 894 pages :color illustrations ;29 cm

Includes bibliographical references and index.

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.

ISBN: 9783662631225

Standard No.: 9783662631225

Nat. Bib. No.: GBC224581bnbSubjects--Topical Terms:

73826
Metabolism, Inborn Errors
--therapy

Dewey Class. No.: 616.39042

National Library of Medicine Call No.: QU 265
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