Decrease In Mental Development And Inborn Errors Of Metabolism
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Inborn Metabolic Diseases
Author | : K. Tada |
Publisher | : Springer Science & Business Media |
Total Pages | : 421 |
Release | : 2013-03-14 |
Genre | : Medical |
ISBN | : 3662031477 |
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Nutritional Deficiency Secondary to Inborn Errors of Metabolism
Author | : Norio Shimazono |
Publisher | : |
Total Pages | : 420 |
Release | : 1977 |
Genre | : Child development |
ISBN | : |
Biomarkers in Inborn Errors of Metabolism
Author | : Uttam Garg |
Publisher | : Elsevier |
Total Pages | : 477 |
Release | : 2017-06-07 |
Genre | : Medical |
ISBN | : 0128029188 |
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. - Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens - Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers - Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism - Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Author | : Nenad Blau |
Publisher | : Springer |
Total Pages | : 880 |
Release | : 2014-07-08 |
Genre | : Medical |
ISBN | : 3642403379 |
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Phosphate Metabolism
Author | : Shaul Massry |
Publisher | : Springer Science & Business Media |
Total Pages | : 611 |
Release | : 2013-11-21 |
Genre | : Medical |
ISBN | : 1461342171 |
We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.
Liver Disease in Children
Author | : Frederick J. Suchy |
Publisher | : Cambridge University Press |
Total Pages | : 995 |
Release | : 2007-05-07 |
Genre | : Medical |
ISBN | : 1139464035 |
Completely revised new edition of the premier reference on pediatric liver disease. Liver Disease in Children, 3rd Edition provides authoritative coverage of every aspect of liver disease affecting infants, children, and adolescents. The book offers an integrated approach to the science and clinical practice of pediatric hepatology and charts the substantial progress in understanding and treating these diseases. Chapters are written by international experts and address the unique pathophysiology, manifestations, and management of these disorders in the pediatric population. The third edition has been thoroughly updated and features new contributions on liver development, cholestatic and autoimmune disorders, fatty liver disease, and inborn errors of metabolism. With the continued evolution of pediatric hepatology as a discipline, this text remains an essential reference for all physicians involved in the care of children with liver disease.
Laboratory Guide to the Methods in Biochemical Genetics
Author | : Nenad Blau |
Publisher | : Springer Science & Business Media |
Total Pages | : 860 |
Release | : 2008-05-31 |
Genre | : Medical |
ISBN | : 3540766987 |
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.