Inborn Errors of Metabolism
Inborn Errors of Metabolism

Author: Brendan Lee

Publisher: Oxford Monographs on Medical G

Published: 2014-10-13

Total Pages: 393

ISBN-13: 0199797587

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This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.

Inborn Metabolic Diseases
Inborn Metabolic Diseases

Author: K. Tada

Publisher: Springer Science & Business Media

Published: 2013-03-14

Total Pages: 421

ISBN-13: 3662031477

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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.

Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening

Author: Michael J. Gambello

Publisher:

Published: 2015

Total Pages: 0

ISBN-13: 9780323356626

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Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.

Neonatal Screening for Inborn Errors of Metabolism
Neonatal Screening for Inborn Errors of Metabolism

Author: H. Bickel

Publisher: Springer Science & Business Media

Published: 2012-12-06

Total Pages: 354

ISBN-13: 3642674887

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Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.

Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology

Author: Michael J. Gambello

Publisher: Elsevier Health Sciences

Published: 2015-08-12

Total Pages: 281

ISBN-13: 0323356850

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Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author: Nenad Blau

Publisher: Springer Nature

Published: 2022-02-21

Total Pages: 1514

ISBN-13: 3030677273

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This updated and enlarged second edition 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 clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com