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5,364 Possible Causes for Mutations in the Cystinosis Gene, Osteoporosis, Subsarcolemmal Accumulation of Normal Mitochondria

  • Juvenile Cystinosis

    […] stage 3 atrophic phase, characterized by reduced/absent/intractable pain, irreversible atrophy of skin/subcutaneous tissues, flexion contractures of foot, advanced osteoporosis[medical-dictionary.thefreedictionary.com] […] and intermyofibrillar accumulation of mitochondria in muscles ( mitochondria stain red).[amboss.com] Genatlas disease for CTNS Gene cystinosis,infantile,nephropathic type Additional Disease Information for CTNS A novel gene encoding an integral membrane protein is mutated[genecards.org]

  • Cystic Fibrosis

    Severe osteoporosis before and after lung transplantation.[ncbi.nlm.nih.gov] This effect has subsequently been demonstrated in a number of models of other diseases caused by stop mutations, including muscular dystrophy, 15 Hurler's syndrome, 16 cystinosis[doi.org] Osteoporosis is a bone mineralisation disorder occurring in about one third of adults with cystic fibrosis.[ncbi.nlm.nih.gov]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Vitamin D Deficiency

    In addition, the optimal standard of care for osteoporosis should encompass adequate calcium and vitamin D intake.[doi.org] Osteoporosis: a possible modifying factor in oral bone loss. Ann Periodontol. 1998;3(1):312–21.[doi.org] Examination results showed severe osteoporosis; both technetium-99m-sestamibi scintigraphy and computed tomography showed an abnormal nodule in the mediastinum, which was[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Menopause

    Abstract We aimed to determine the protective effects against cerebral ischemia and osteoporosis of Morinda citrifolia extract in experimental menopause.[ncbi.nlm.nih.gov] Osteoporosis Calcium and vitamin D supplements — All postmenopausal women who have osteoporosis or are at risk of osteoporosis should take calcium and vitamin D supplements[drugs.com] […] with an estrogen or alone to treat menopausal symptoms (vasomotor symptoms, genitourinary syndrome of menopause), breast cancer or the risk of breast cancer, osteopenia, osteoporosis[ncbi.nlm.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Neonatal Severe Primary Hyperparathyroidism

    Phenotype Life-threatening, severe osteoporosis. Main biochemical alterations Extremely high Ca, high Ur Ca, low Pi, high Ur Pi, high PTH. Images Fig.[iofbonehealth.org] ., Antignac, C. (1998) A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.[scindeks.ceon.rs] Marcus’ laboratory was a study site for many of the pivotal clinical trials in the osteoporosis field.[books.google.de]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Esophagitis

    Effect of oral alendronate on bone mineral density and the incidence of fractures in postmenopausal osteoporosis. N Engl J Med 1995 ;333: 1437 - 1443 2.[nejm.org] […] cause esophagitis include: aspirin doxycycline iron supplements nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil, Motrin) or naproxen (Aleve, Naprosyn) osteoporosis[health.harvard.edu] Effects of oral alendronate and intranasal salmon calcitonin on bone mass and biochemical markers of bone turnover in postmenopausal women with osteoporosis.[nejm.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Osteoporosis

    What is osteoporosis? Osteoporosis is a disease in which your bones become weak and are more likely to break.[niams.nih.gov] Being too thin makes you more likely to get osteoporosis. Is there a test for it? Is there a test for osteoporosis?[niams.nih.gov] Living with it Living with osteoporosis Many of the things you do to prevent osteoporosis also help you to manage it.[niams.nih.gov]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria
  • Cystinosis

    […] stage 3 atrophic phase, characterized by reduced/absent/intractable pain, irreversible atrophy of skin/subcutaneous tissues, flexion contractures of foot, advanced osteoporosis[medical-dictionary.thefreedictionary.com] Patients with less severe cystinosis gene mutations tend to have better kidney outcome.[cjasn.asnjournals.org] mutations of the cystinosis gene ( CTNS ).[emedicine.medscape.com]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Hereditary Neonatal Hyperparathyroidism

    Marcus’ laboratory was a study site for many of the pivotal clinical trials in the osteoporosis field.[books.google.com] Type 1 hyperoxaluria ( 1-9/1000000, ORPHA93598) is induced by a liver peroxisomal deficiency secondary to alanine glyoxylate aminotransferase gene mutations [ 53 ].[ojrd.biomedcentral.com] Phenotype Life-threatening, severe osteoporosis. Main biochemical alterations Extremely high Ca, high Ur Ca, low Pi, high Ur Pi, high PTH. Images Fig.[iofbonehealth.org]

    Missing: Subsarcolemmal Accumulation of Normal Mitochondria
  • Peripheral Neuropathy

    Comprehensive health information about cancer, osteoporosis, high blood pressure and more.[web.archive.org] Seung Woo Kim, Young‐Chul Choi, Seung Min Kim and Ha Young Shin, Risk factors for osteoporosis in chronic inflammatory demyelinating polyradiculoneuropathy, Muscle & Nerve[dx.doi.org] […] depression, weight management, osteoarthritis and more from MerckSource.com Health Resource Library - Information about Irritable Bowel Syndrome (IBS), high blood pressure, osteoporosis[web.archive.org]

    Missing: Mutations in the Cystinosis Gene Subsarcolemmal Accumulation of Normal Mitochondria

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