نتایج جستجو برای: fanconi bickel syndrome
تعداد نتایج: 624826 فیلتر نتایج به سال:
Fanconi anemia is a severe bone marrow failure syndrome resulting from inactivating mutations of Fanconi anemia pathway genes. Gene and cell therapy trials using hematopoietic stem cells and progenitors have been hampered by poor mobilization of HSC to peripheral blood in response to G-CSF. Using a murine model of Fanconi anemia (Fanca(-/-) mice), we found that the Fanca deficiency was associat...
A 66-year-old man was referred for evaluation and management of persistent hypophosphatemia (0.42 mmol/l) related to hyperphosphaturia. The patient reported intense diffuse osteoarticular pain since 1 year with weight loss 9 kg. Osteomalacia diagnosed a Fanconi syndrome ruled out. An increased plasma value fibroblast growth factor 23 observed (2.5-fold the upper range limit), suggesting presenc...
Aim—To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. Methods—The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. Results—All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all but o...
AIM To describe the clinical phenotype in infants with ARC syndrome, the association of arthrogryposis, renal tubular acidosis, and cholestasis. METHODS The medical records for six patients with ARC syndrome were reviewed, presenting over 10 years to three paediatric referral centres. RESULTS All patients had the typical pattern of arthrogryposis. Renal Fanconi syndrome was present in all b...
CREETH, J. M., KEKWICK, R. A., FLYNN, F. V., HARRIS, H., and ROBSON, E. B. (1963): An Ultracentrifuge Study of Urine Proteins with Particular Reference t,o the (Proteinuria of Renal Tubular Disorders, Clin. Chim. Acta, 8, 406. DENT, C. E., and HARRIS, H. (1951): The Genetics of Cystinuria, Ann. Eugen. (Lond.), 16, 60. ENGLE, R. L. Jr., and WALLIS, L. A. (1956): Multiple Myeloma and the Adult Fa...
BACKGROUND Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition. Available single disease registries provide reliable information regarding natural history, efficacy and side effects of treatments, and contribute to the discovery of the causative genes. However, these registries could not shed li...
The National Cancer Institute Inherited Bone Marrow Failure Syndromes Cohort enrolls patients with the four major syndromes: Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, and follows them with a common comprehensive protocol. The current analysis includes more than double the numbers of patients and person-years since our first report, publishe...
Systemic sclerosis (SSc) may affect the gastrointestinal tract and cause very rarely malabsorption syndrome related to bacterial overgrowth. Malabsorption syndrome may be responsible for weight loss, diarrhea, osteomalacia, and iron and vitamins deficiency. We report the case of a SSc patient who developed osteomalacia caused by the combination of two exceptional conditions in the setting of SS...
The renal defects resulting in a Fanconi syndrome were seen in eight Basenji dogs by measuring renal clearance and in vitro amino acid and sugar uptake and performing histopathologic evaluations. Renal tubular handling of glucose, phosphate, sodium, potassium, uric acid, and amino acids was abnormal, and in vitro uptake of labeled lysine, glycine, and alpha-methyl-D-glucoside by renal cortical ...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید