Saudubray, J. M. (Jean-Marie) 1937-

Inborn metabolic diseases : diagnosis and treatment by J Fernandes( )

84 editions published between 1989 and 2021 in 3 languages and held by 1,326 WorldCat member libraries worldwide

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. The Editors Jean-Marie Saudubray, M.D., is Emeritus Professor of Pediatrics and Expert Metabolic Consultant at the adult neuro-metabolic unit in the Hôpital La Pitié Salpétrière from the Université Pierre et Marie Curie, Paris. Matthias R. Baumgartner, M.D., Professor of Paediatrics and Inherited Metabolic Medicine, University of Zurich, is Head of the Division of Metabolism and the Swiss Newborn Screening Programme at the University Children’s Hospital, Zurich. John Walter, M.D. is Honorary Clinical Professor of Inherited Metabolic Medicine, Manchester Academic Health Science Centre, Willink Unit, Manchester

Inborn metabolic diseases : diagnosis and treatment( )

1 edition published in 2022 in English and held by 54 WorldCat member libraries worldwide

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. Ángeles 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.

Les Vitamines : aspects metaboliques, genetiques, nutritionnels et therapeutiques( Book )

3 editions published in 1987 in French and held by 54 WorldCat member libraries worldwide

Maladies métaboliques( Book )

3 editions published in 1991 in French and held by 42 WorldCat member libraries worldwide

Diagnostic prénatal des maladies héréditaires : répertoire des maladies et laboratoires by Monique Mathieu( Book )

1 edition published in 1999 in French and held by 8 WorldCat member libraries worldwide

Vademecum metabolicum manuel de pédiatrie métabolique by Johannes Zschocke( Book )

1 edition published in 2005 in French and held by 4 WorldCat member libraries worldwide

Diagnostic prénatal des maladies héréditaires by Monique Mathieu( )

2 editions published in 1999 in French and held by 3 WorldCat member libraries worldwide

DEFICIT EN PYRUVATE DESHYDROGENASE : ETUDE CLINIQUE ET BIOCHIMIQUE DE 8 DEFICITS CERTAINS ET 38 SUSPICIONS DE DEFICIT EN PYRUVATE DESHYDROGENASE by VINCENT DES PORTES( Book )

1 edition published in 1994 in French and held by 2 WorldCat member libraries worldwide

Neurological Deterioration and Lactic Acidemia in Biotinidase Deficiency A Treatable Condition Mimicking Leigh's Disease( )

1 edition published in 2008 in English and held by 2 WorldCat member libraries worldwide

Impaired plasmalogen metabolism in infantile Refsum's disease by B. T Poll-Thé( )

1 edition published in 1986 in English and held by 2 WorldCat member libraries worldwide