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عنوان فارسی مقاله:
هیپوفسفاتازیا : مطالعه تاریخ طبیعی 101 کودک تحت تاثیر بررسی شده در یک مرکز تحقیقات
عنوان انگلیسی مقاله:
Hypophosphatasia: Natural history study of 101 affected children investigated at one research center
سال انتشار : 2016
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مقدمه انگلیسی مقاله:
1. Introduction
1. Introduction Hypophosphatasia (HPP) is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of the TNSALP (ALPL) gene that encodes the “tissue-nonspecific” isoenzyme of alkaline phosphatase (TNSALP) [1]. Because TNSALP is a cell-surface protein, its substrates accumulate extracellularly in HPP, including the potent inhibitor of mineralization, inorganic pyrophosphate (PPi) [2]. The PPi excess usually leads to dental disease and sometimes to rickets or osteomalacia with muscle weakness and sometimes in adults to calcific arthropathies [3,4]. In fact, HPP manifests the most broad-ranging severity of all skeletal diseases as largely explained by autosomal dominant versus autosomal recessive transmission from among several hundred typically missense mutations positioned throughout TNSALP [1,3,5]. HPP expressivity spans absence of skeletal mineralization causing stillbirth to difficulties with teeth or arthropathy presenting late in adult life To organize this remarkable range of HPP severity, a clinical nosology has evolved since 1957 [7] that emphasizes whether the especially prevalent dental problems [5] are accompanied by skeletal and other complications [1,3,4]. Patient age, if and when non-dental difficulties first manifest, is used to demarcate five principal forms of HPP according to increasing severity: odonto HPP, adult HPP, childhood HPP, infantile HPP, and perinatal HPP [1,3,6]. Nevertheless, the natural histories of only perinatal HPP [8,9] and infantile HPP featuring certain important complications [9] are understood.
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کلمات کلیدی:
Hypophosphatasia - Wikipedia https://en.wikipedia.org/wiki/Hypophosphatasia Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria) is a rare, and sometimes fatal, metabolic bone disease. Clinical symptoms · Causes · Diagnosis · Inheritance Hypophosphatasia: Background, Pathophysiology, Epidemiology emedicine.medscape.com/article/945375-overview Dec 11, 2015 - Initially recognized by Rathbun in 1948, hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding ... Hypophosphatasia - NORD (National Organization for Rare Disorders) https://rarediseases.org › For Patients and Families › Rare Disease Information Hypophosphatasia (HPP) is a rare genetic disorder characterized by the abnormal development of bones and teeth. These abnormalities occur due to defective ... Hypophosphatasia | Orphanet Journal of Rare Diseases | Full Text https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-2-40 by E Mornet - 2007 - Cited by 257 - Related articles Oct 4, 2007 - Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone ... Orphanet: Hypophosphatasia www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=436 Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity ... Hypophosphatasia Causes, Symptoms and Treatment | Rare Bone ... www.hypophosphatasia.com/ Hypophosphatasia (HPP) is a serious, progressive, and lifelong disease that can damage bones and organs. Hypophosphatasia - American Dental Association www.ada.org/member-center/oral-health-topics/hypophosphatasia Oct 27, 2015 - Hypophosphatasia is a rare, inherited metabolic disorder in which patients have deficient tissue nonspecific alkaline phosphatase (TNAP) ... Hypophosphatasia - Osteogenesis Imperfecta Foundation | OIF.org www.oif.org/site/PageServer?pagename=Hypophosphatasia Hypophosphatasia. Definition Hypophosphatasia is one of several disorders that resembles osteogenesis imperfecta. It is an inherited metabolic (chemical) ... Images for Hypophosphatasia
