Inborn Errors of Metabolism - Part I
Ped. IEM
(Sprache: Englisch)
Disorders in which single gene defects cause clinically significant blocks in metabolic pathways are called inborn errors of metabolism. Many of these disorders can now be treated effectively. Even when treatment is not available, correct diagnosis permits...
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Disorders in which single gene defects cause clinically significant blocks in metabolic pathways are called inborn errors of metabolism. Many of these disorders can now be treated effectively. Even when treatment is not available, correct diagnosis permits parents to make informed decisions about future offspring. The pathology is almost always due either to accumulation of enzyme, substrate behind a metabolic block or to deficiency of the reaction product. In some cases, the accumulated enzyme substrate is diffusible and has adverse effects on distant organs; in other cases, as in lysosomal storage diseases, the substrate primarily accumulates locally. The book is classified to two Parts.Part I describes the: Disorders of Carbohydrate metabolism Disorders of lipid metabolismDisorders of amino acids metabolismThis book will be beneficial for under and postgraduate students and not only.
Autoren-Porträt von Dr. Elsayed Salama
Salama, Dr. ElsayedDr. Elsayed Salama is a Prof. of Pediatrics and Neonatology, Head of the Department at Menoufyia Univ., EGYPT; a Consultant in neonatology, HMC, WWRC, in QATAR; a visiting Professorship at USA, California, UCSD, where he finished the MD thesis. He has 36 published articles, 2 international text books and the first series in pediatrics in Arabic.
Bibliographische Angaben
- Autor: Dr. Elsayed Salama
- 2021, 140 Seiten, Maße: 22 cm, Kartoniert (TB), Englisch
- Verlag: LAP Lambert Academic Publishing
- ISBN-10: 6203308811
- ISBN-13: 9786203308815
Sprache:
Englisch
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