william nyhan (16 Ergebnisse)

Soft cover. Zustand: Fine. Illustrated by John A. Craig. 32 pp with color illustrations.

Wraps. Craig, John A. (illustrator). Presumed first edition/first printing. [2], 32, [12] p. Includes illustrations. Most illustrations in color. Bibliography. The Novartis Foundation produces Symposia, in which groups of leading scientists from a range of topics across biology, chemistry and medicine assembled to present papers and discuss results. The Novartis Foundation, originally known as the Ciba Foundation, is well known to scientists and clinicians around the world. From WIkipdeia: "Cytogenetics is a branch of genetics that is concerned with the study of the structure and function of the cell, especially the chromosomes. [1] It includes routine analysis of G-banded chromosomes, other cytogenetic banding techniques, as well as molecular cytogenetics such as fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH)." From Wikipedia: "William Leo Nyhan (born March 13, 1926) is an American physician who is currently Professor of Pediatrics at UC San Diego School of Medicine in La Jolla, California. He has also held positions at Johns Hopkins University School of Medicine, University of Miami School of Medicine. In addition, Nyhan has served on a number of advisory committees, pediatric advisory boards, and on the board of research foundations. His over 56 years of experience and interests in areas of research span a wide variety of disorders of amino acid metabolism. These include 4-Hydroxybutyric aciduria, 3-methylglutaconyl-Co A hydratase deficiency, multiple carboxylase deficiency, methylmalonic acidemia, and propionic acidemia. He is most-widely known as the co-discoverer of Lesch-Nyhan syndrome. Currently, he is involved in the ongoing development of tandem mass spectrometry for use in newborn screening and research, and is involved in identifying the cause(s) of progressive neurologic disability in MMA after liver transplantation. Nyhan has studied the neuropathology of propionic acidemia (PA) including the manifestation of basal ganglia infarction and the neurologic non-metabolic presentation of PA. Current research includes evaluating the use of dichloroacetate (DCA) in treating a broad range of patients with mitochondrial disease leading to lactic acidemia." Good. Cover has some wear and soiling.

2nd ed. XVII, 605 p. Hardcover. 2nd ed. Versand aus Deutschland / We dispatch from Germany via Air Mail. Einband bestoßen, daher Mängelexemplar gestempelt, sonst sehr guter Zustand. Imperfect copy due to slightly bumped cover, apart from this in very good condition. Stamped. Sprache: Englisch.

Hardcover. 4to. Several tears and some rubbing to dust jacket, o/wise good condition. 765pp. ISBN 0471652253. 11436.

Zustand: New. pp. 680.

Zustand: New. This is a Brand-new US Edition. This Item may be shipped from US or any other country as we have multiple locations worldwide.

Hardcover. Zustand: gut. 1976. Genetic & Malformation Syndromes in clinical Medicine In deutscher Sprache. pages.

Zustand: New. pp. 896.

Zustand: Sehr gut. Zustand: Sehr gut | Seiten: 720 | Sprache: Englisch | Produktart: Bücher | Keine Beschreibung verfügbar.

Taschenbuch. Zustand: Neu. Inherited Metabolic Diseases | A Clinical Approach | Georg F. Hoffmann (u. a.) | Taschenbuch | xvii | Englisch | 2018 | Springer | EAN 9783662570081 | Verantwortliche Person für die EU: Springer Verlag GmbH, Tiergartenstr. 17, 69121 Heidelberg, juergen[dot]hartmann[at]springer[dot]com | Anbieter: preigu.

Gebunden. Zustand: New. William L. Nyhan, MD, PhD, is Professor of Pediatrics and Founding Director of The William L. Nyhan Biochemical Genetics and Metabolomics Laboratory at the University of California, San Diego.Georg F. Hoffmann, MD,

Book/CD-ROM. Zustand: Brand New. 4th edition. 855 pages. 11.00x8.25x1.75 inches. In Stock.

Taschenbuch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

Buch. Zustand: Neu. Druck auf Anfrage Neuware - Printed after ordering - This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.

Buch. Zustand: Neu. Neuware - The fourth edition of this highly regarded book, authored by some of the foremost authorities in pediatric metabolic medicine, provides an invaluable insight into the problems associated with metabolic diseases. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.

Zustand: VG. NY 1974 1st (stated). 4to., 765pp., illus., index. Major work in molecular genetics. VG, light wear, a few bumps in cover, in VG DJ, light wear, rubbing, one or two small chips.