cystinosis/phosphatase

Bağlantı panoya kaydedilir

NesneKlinik denemelerPatentler

Sıralama türünü seçin

13 Sonuçlar

Bone and mineral metabolism in children with nephropathic cystinosis compared to other CKD entities.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Children with nephropathic cystinosis (NC) show persistent hypophosphatemia, due to Fanconi syndrome, as well as mineral and bone disorders related to chronic kidney disease (CKD), but systematic analyses are lacking.To compare biochemical parameters of

Cystinosis with marked atrophy of the kidneys and thyroid. Histological and ultrastructural studies in an autopsy case.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

The eldest autopsied case (a 23-year-old man) of infantile form of cystinosis with uremia and myxoedema was reported. The cystine content per gram wet tissue of various organs was arranged as follows: the thyroid (4.61 mg), kidney (1.71 mg), eye (0.75 mg), spleen (0.65 mg), liver (0.49 mg), and

Cystinosis with sclerotic bone lesions.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

A 26-year-old male with nephropathic cystinosis treated with cysteamine and renal transplantation presented for evaluation of multiple sclerotic bone lesions, which were an incidental finding on chest computerized tomography. These lesions were in a pattern consistent with osteoblastic metastases.

Human cystinosis: intracellular deposition of cystine.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Membrane-limited inclusions were found in the cytoplasm of cells of the rectal mucosa, leukocytes, and cultured fibroblasts from two humans with cystinosis. Most of the inclusions contained amorphous material, presumably cystine. In cells of the rectal mucosa the material appeared frequently

Cholestatic liver disease in long-term infantile nephropathic cystinosis.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

BACKGROUND Cystinosis is a metabolic disease characterized by accumulation of cystine in different organs and tissues, leading to potentially life-threatening organ dysfunction. Infantile cystinosis typically leads to end-stage renal disease, necessitating renal replacement therapy. Liver disease in

Management of bone disease in cystinosis: Statement from an international conference.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians,

Distal vacuolar myopathy in nephropathic cystinosis.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long-term complications. Muscle involvement has been reported in a single posttransplant

Cystinosis: electron microscopic evidence of lysosomal storage of cystine in lymph node.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Electron microscopic examination of a biopsy specimen of cystinotic lymph node demonstrated that cystine crystals were entirely intracellular, and that the majority, including those of the largest size, were enclosed by intact limiting membranes. Acid phosphatase activity was localized specifically

Intrinsic Bone Defects in Cystinotic Mice.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Cystinosis is a rare lysosomal storage disorder caused by loss-of-function mutations of the CTNS gene, encoding cystinosin, a symporter that mediates cystine efflux from lysosomes. Approximately 95% of patients with cystinosis display renal Fanconi syndrome, short stature, osteopenia, and rickets.

1alpha-hydroxyvitamin D3 in the treatment of nutritional and metabolic rickets and osteomalacia.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Five patients with nutritional osteomalacia or rickets and six children with rickets unresponsive to physiological doses of vitamin D were treated with 1alpha-hydroxyvitamin D3 (1alpha-OHD3). Patients with nutritional osteomalacia responded to 1--2 microgram/day of 1alpha-OHD3. The most striking

Cysteamine treatment restores the in vitro ability to differentiate along the osteoblastic lineage of mesenchymal stromal cells isolated from bone marrow of a cystinotic patient.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

BACKGROUND Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene, which encodes for a lysosomal cystine/H(+) symporter. In mice, inactivation of the CTNS gene causes intralysosomal cystine accumulation and progressive organ damage that can be reversed, at least in

Cystine dimethyl ester reduces the forces driving sodium-dependent transport in LLC-PK1 cells.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Cystinosis is an inherited metabolic disease characterized by accumulation of lysosomal cystine and renal impairment. In an attempt to better understand the link between cystine accumulation and renal functions, we studied the effects of cystine loading on the Na(+)-H+ antiporter and the sodium pump

Elevated oxidized glutathione in cystinotic proximal tubular epithelial cells.

Sadece kayıtlı kullanıcılar makaleleri çevirebilir

Giriş yapmak kayıt olmak

Cystinosis, the most frequent cause of inborn Fanconi syndrome, is characterized by the lysosomal cystine accumulation, caused by mutations in the CTNS gene. To elucidate the pathogenesis of cystinosis, we cultured proximal tubular cells from urine of cystinotic patients (n = 9) and healthy controls

Facebook sayfamıza katılın

Herbal & Natural Medicine

Bilim tarafından desteklenen en eksiksiz şifalı otlar veritabanı

55 dilde çalışır
Bilim destekli bitkisel kürler
Görüntüye göre bitki tanıma
Etkileşimli GPS haritası - bölgedeki bitkileri etiketleyin (yakında)
Aramanızla ilgili bilimsel yayınları okuyun
Şifalı bitkileri etkilerine göre arayın
İlgi alanlarınızı düzenleyin ve haber araştırmaları, klinik denemeler ve patentlerle güncel kalın

Bir belirti veya hastalık yazın ve yardımcı olabilecek bitkiler hakkında bilgi edinin, bir bitki yazın ve karşı kullanıldığı hastalıkları ve semptomları görün.
* Tüm bilgiler yayınlanmış bilimsel araştırmalara dayanmaktadır