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Alkaptonuria and Ochronosis / edited by Jozef Rovenský, Tibor Urbánek, Boldišová Oľga, James A. Gallagher

Contributor(s): Rovenský Jozef, editor literario | Urbánek, Tibor, editor literario | Boldišová, Olga, editor literario | Gallagher, James A., editor literario | SpringerLink (Online service)
Material type: materialTypeLabelE-bookPublisher: Cham, Switzerland : Springer, 2015Description: 1 recurso en línea (VIII, 156 páginas) : 56 ilustraciones, 26 ilustraciones en color.ISBN: 9783319151083.Subject: Biología molecular | Aparato respiratorio -- Enfermedades | DermatologíaOnline resources: Acceso a este recurso digital (usuarios Universidad Europea de Madrid)Digital Resources
Contents:
Introduction -- Alkaptonuria and Ochronosis -- History -- Metabolism of Aromatic Amino Acids -- Tyrosine Metabolism Disorders -- Detection of Homogentisic Acid in Plasma and Urine -- Alkaptonuria Genetics -- Experimental Alkaptonuria in Animals -- Experimental Models of Alkaptonuria and Ochronosis -- Ochronotic Arthropathy -- Clinical Manifestation of Ochronotic Arthropathy in the Spine -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Spine -- Clinical Manifestation of Ochronotic Arthropathy in the Peripheral Joints -- Clinical and Ultrasound Evaluation of Enthesopathy in Alkaptonuria in the Romani Community -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Area of the Peripheral Joints -- Manifestations of Alkaptonuric Ochronosis in the Eye -- Symptoms of Alkaptonuria and Ochronosis in the Ear -- Manifestations of Alkaptonuria and Ochronosis in the Visceral Organs -- Manifestations of Alkaptonuria and Ochronosis in the Respiratory Tract -- Pathological Anatomy and Histology of Ochronosis -- Cellular and Molecular Patholgenesis of Ochronosis -- Picture of Synovial Effusion in Ochronosis -- Coincidence of Alkaptonuric Ochronosis with Other Diseases -- Differential Diagnosis of the Disease -- Sine Syndromes in Alkaptonuria -- History of Nitisinone (NTBC) -- Case Reports -- References.
Abstract: This book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory tract, its pathological anatomy and histology, as well as differential diagnosis. This is complemented by the latest data on therapy and experimental models of alkaptonuria, and supported by several case reports. Numerous pictures and radiological images document the clinical symptoms, giving the reader a solid understanding of the disease. On the basis of the editorâ€{u3821}nd authorsâ€{u0BF7}n extensive observations, the book offers an analysis of protein metabolism and aromatic amino acids in the context of alkaptonuria. Written by international experts in the field, the book offers a valuable reference guide for healthcare professionals working in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.
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Holdings
Item type Current library Collection Call number Copy number Status Date due Barcode Item holds
LIBRO-E NO PRÉSTAMO LIBRO-E NO PRÉSTAMO Madrid Digital Acceso Electrónico (UEM) Ciencias de la Salud RC620.5 A453 2015 EB (Browse shelf(Opens below)) .i11577228 Acceso electrónico eBOOK .i11577228
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Introduction -- Alkaptonuria and Ochronosis -- History -- Metabolism of Aromatic Amino Acids -- Tyrosine Metabolism Disorders -- Detection of Homogentisic Acid in Plasma and Urine -- Alkaptonuria Genetics -- Experimental Alkaptonuria in Animals -- Experimental Models of Alkaptonuria and Ochronosis -- Ochronotic Arthropathy -- Clinical Manifestation of Ochronotic Arthropathy in the Spine -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Spine -- Clinical Manifestation of Ochronotic Arthropathy in the Peripheral Joints -- Clinical and Ultrasound Evaluation of Enthesopathy in Alkaptonuria in the Romani Community -- Analysis of X-Ray Symptomatology of Ochronotic Arthropathy in the Area of the Peripheral Joints -- Manifestations of Alkaptonuric Ochronosis in the Eye -- Symptoms of Alkaptonuria and Ochronosis in the Ear -- Manifestations of Alkaptonuria and Ochronosis in the Visceral Organs -- Manifestations of Alkaptonuria and Ochronosis in the Respiratory Tract -- Pathological Anatomy and Histology of Ochronosis -- Cellular and Molecular Patholgenesis of Ochronosis -- Picture of Synovial Effusion in Ochronosis -- Coincidence of Alkaptonuric Ochronosis with Other Diseases -- Differential Diagnosis of the Disease -- Sine Syndromes in Alkaptonuria -- History of Nitisinone (NTBC) -- Case Reports -- References.

This book comprehensively describes alkaptonuria and ochronosis. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed characterization of its clinical manifestation in the spine, peripheral joints, eyes, ears, visceral organs and respiratory tract, its pathological anatomy and histology, as well as differential diagnosis. This is complemented by the latest data on therapy and experimental models of alkaptonuria, and supported by several case reports. Numerous pictures and radiological images document the clinical symptoms, giving the reader a solid understanding of the disease. On the basis of the editorâ€{u3821}nd authorsâ€{u0BF7}n extensive observations, the book offers an analysis of protein metabolism and aromatic amino acids in the context of alkaptonuria. Written by international experts in the field, the book offers a valuable reference guide for healthcare professionals working in rheumatology, dermatology, pulmonology, otolaryngology and histopathology.

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