Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism
نویسندگان
چکیده
منابع مشابه
The Kidney Involvement In Inborn Errors Of Metabolism
Inborn errors of metabolism are characterized by a significant heterogeneity in pathophysiological mechanisms and clinical manifestations. A variety of kidney disorders, inherited or acquired, can consist clinical signs of metabolic disorders. The most frequent of them include Fanconi syndrome, renal tubular acidosis, nephrolithiasis, renal cysts and acute kidney injury. On the other hand, many...
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The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport ...
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l-Proline concentration is primarily related to the balance of enzymatic activities of proline dehydrogenase [proline oxidase (POX)] and Delta-1-pyrroline-5-carboxylate (P5C) reductase. As a result, P5C plays a pivotal role in maintaining the concentration of proline in body fluids and inborn errors of P5C metabolism lead to disturbance of proline metabolism. Several inborn errors of proline me...
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structural lipid and a precursor molecule for bile acid and steroid hormone synthesis. In addition, this ubiquitous lipid is now known to contribute fundamentally to the development and function of the CNS and the bones, and, as detailed in other articles in this Perspective series, it plays major roles in signal transduction, sperm development, and embryonic morphogenesis. Over the past decade...
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ژورنال
عنوان ژورنال: Respiration
سال: 2017
ISSN: 0025-7931,1423-0356
DOI: 10.1159/000475762