Pediatric endocrinology and inborn errors of metabolism pdf

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pediatric endocrinology and inborn errors of metabolism pdf

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As a result of this step-wise approach, we hope that medical professionals at any level involved in caring for endocrine and metabolic patients will find this textbook a useful and comprehensive resource. PART I. Newborn Screening Chapter 2.

Introduction to laboratory diagnosis and biomarkers in inborn error of metabolism 2. Amino acid disorders 3. Organic acid disorders 4.

Pediatric Endocrinology and Inborn Errors of Metabolism, 2e

The system can't perform the operation now. Try again later. Citations per year. Duplicate citations. The following articles are merged in Scholar.

Their combined citations are counted only for the first article. Merged citations. This "Cited by" count includes citations to the following articles in Scholar. Add co-authors Co-authors. Upload PDF. Follow this author. New articles by this author. New citations to this author. New articles related to this author's research. Email address for updates. My profile My library Metrics Alerts. Sign in. Articles Cited by. Title Sort Sort by citations Sort by year Sort by title. Pediatric Clinics of North America 55 5 , , The Indian Journal of Pediatrics 72 2 , , Journal of Pediatric Endocrinology and Metabolism 31 1 , , Adolescent medicine: state of the art reviews 18 1 , , viii , Journal of Pediatric Endocrinology and Metabolism 18 6 , , Journal of Investigative Medicine 68 1 , , Articles 1—20 Show more.

Help Privacy Terms. Disease-a-Month 64 4 , , Clinical approach to the diagnoses of inborn errors of metabolism M Kamboj Pediatric Clinics of North America 55 5 , , Pediatric Rheumatology 15 1 , , Polycystic ovary syndrome in adolescence: diagnostic and therapeutic strategies MK Kamboj, AE Bonny Translational pediatrics 6 4 , , Transition of care for patients with type 1 diabetes mellitus from pediatric to adult health care systems EO Buschur, B Glick, MK Kamboj Translational pediatrics 6 4 , , The Journal of pediatrics 1 , , Metabolic bone disease in adolescents: recognition, evaluation, treatment, and prevention.

MK Kamboj Adolescent medicine: state of the art reviews 18 1 , , viii , Management of nonpsychiatric medical conditions presenting with psychiatric manifestations MK Kamboj, RS Tareen Pediatric Clinics 58 1 , , Office management of the adolescent with diabetes mellitus.

Journal of Pediatric Neurology and Neuroscience

In the field of Inborn Errors of Metabolism IEM , a number of excellent textbooks are available; these constitute a wonderful resource for medical education and training. Traditionally, an important section of IEM textbooks and also clinical IEM departments is represented by neurology with the advent of neurometabolic diseases. The rationale for presenting pediatric endocrinology with IEM with one voice is strong, useful and very interesting. This second edition of the book has been entirely revisited and renewed. It presents recent knowledge on most of the IEM and endocrine disorders in childhood from newborn screening to Cushing syndrome, diabetes, and mitochondrial disease.

J Pediatr Neurol Neurosci 2 1 Accepted: September 10, Published Online: September 12, The term "inborn errors of metabolism" IEM , also referred to as congenital metabolic diseases, is described as the hereditary deficiency of enzymes or alteration in protein structure and function resulting in metabolic derangement that may have pathologic consequences [ 1 ]. These disorders result in substrate accumulation causing minor to severe neurological and psychiatric manifestations resulting in lifelong disability or death [ 2 ]. The incidence of IEM collectively is estimated to be as high as 1 in live births, but it varies greatly [ 3 ]. There are limited published studies on newborn screening of IEM in developing countries. In one study done in India the prevalence of IEM was 1 per newborns [ 5 ].


Pediatric Endocrinology and Inborn Errors of Metabolism, 2e. Kyriakie Sarafoglou​, Georg F. Hoffmann, Karl S. Roth. Search Textbook Autosuggest Results.


Pediatric Endocrinology and Inborn Errors of Metabolism, Second Edition

Inherited metabolic diseases constitute more than different diagnoses which are all rare, but reach a cumulative incidence of approximately — newborns. Many of them may present in the first days of post-natal life, but they may also become apparent in older patients at every age. Symptoms vary widely and are often non-specific.

CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases HMD and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins. Clinical cases are presented with the peculiar symptoms of various diseases. This review includes inheritance patterns and clinical and laboratory findings of the more common IEM diseases within a clinical classification that give a general idea about these disorders. A summary of treatment types for metabolic inherited diseases is given. They are also to be found in neurological, pediatric, obstetrics, surgical and psychiatric clinics seeking diagnoses, prognoses and therapeutic or supportive treatment.

While we are building a new and improved webshop, please click below to purchase this content via our partner CCC and their Rightfind service. You will need to register with a RightFind account to finalise the purchase. Objective The aim of the Journal of Pediatric Endocrinology and Metabolism JPEM is to diffuse speedily new medical information by publishing clinical investigations in pediatric endocrinology and basic research from all over the world. JPEM is the only international journal dedicated exclusively to endocrinology in the neonatal, pediatric and adolescent age groups. JPEM is a high-quality journal dedicated to pediatric endocrinology in its broadest sense, which is needed at this time of rapid expansion of the field of endocrinology.

Metrics details. The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism IEM.

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