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524101 to 524200 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells.
Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations.
Natural history of Danon disease.
LAMP2 microdeletions in patients with Danon disease.
Exercise training does not correct abnormal cardiac glycogen accumulation in the db/db mouse model of type 2 diabetes.
Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.
Danon disease presenting with dilated cardiomyopathy and a complex phenotype.
Danon disease as a cause of autophagic vacuolar myopathy.
Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?
A novel vacuolar myopathy with dilated cardiomyopathy.
Ophthalmic manifestations of Danon disease.
Cardiovascular magnetic resonance findings in a case of Danon disease.
Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children.
Autophagy in lysosomal myopathies.
Tuning flux: autophagy as a target of heart disease therapy.
Autophagic vacuolar myopathy.
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.
Regulation of phenotypic variability by a threshold-based mechanism underlies bacterial persistence.
Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).
The genomic signature of dog domestication reveals adaptation to a starch-rich diet.
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Enzyme replacement therapy in the mouse model of Pompe disease.
Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II.
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
Decreased renal α-Klotho expression in early diabetic nephropathy in humans and mice and its possible role in urinary calcium excretion.
Evidence for increased postprandial distal nephron calcium delivery in hypercalciuric stone-forming patients.
A randomized study of alglucosidase alfa in late-onset Pompe's disease.
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
Idiopathic hypercalciuria: a preliminary report.
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development.
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4.
The calcium-sensing receptor promotes urinary acidification to prevent nephrolithiasis.
New insights into the pathogenesis of idiopathic hypercalciuria.
A consideration of the hypercalciuria in sarcoidosis, idiopathic hypercalciuria, and that produced by vitamin D; a new suggestion regarding calcium metabolism.
Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease.
Dose response to vitamin D supplementation in postmenopausal women: a randomized trial.
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria.
NHERF1 mutations and responsiveness of renal parathyroid hormone.
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Effect of recombinant human parathyroid hormone (1-84) on vertebral fracture and bone mineral density in postmenopausal women with osteoporosis: a randomized trial.
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.
ELECTRON MICROSCOPIC AND BIOCHEMICAL STUDIES ON THE BRONCHIAL CARCINOID TUMOR.
CYLD negatively regulates cell-cycle progression by inactivating HDAC6 and increasing the levels of acetylated tubulin.
Ultrastructural variations of nuclear bodies in human diseases.
Smart (simultaneous modulated accelerated radiation therapy) boost: a new accelerated fractionation schedule for the treatment of head and neck cancer with intensity modulated radiotherapy.
Systemic therapy in the palliative management of advanced salivary gland cancers.
Adenoid cystic carcinoma of salivary origin. A clinicopathologic study of 242 cases.
Loss of the tumor suppressor CYLD enhances Wnt/beta-catenin signaling through K63-linked ubiquitination of Dvl.
Odontogenic tumors. A demographic study of 759 cases in a Chinese population.
MALIGNANT TUMORS METASTATIC TO MOUTH AND JAWS.
Clinical indications for digital volume tomography in oral and maxillofacial surgery.
Osteonecrosis of the jaws in patients treated with bisphosphonates - histomorphologic analysis in comparison with infected osteoradionecrosis.
Imatinib mesylate in patients with adenoid cystic cancers of the salivary glands expressing c-kit: a Princess Margaret Hospital phase II consortium study.
Adenomatoid odontogenic tumor: biologic profile based on 499 cases.
UNIDENTIFIED, FILTRABLE AGENTS ISOLATED FROM AFRICAN CHILDREN WITH MALIGNANT LYMPHOMAS.
Reconstruction of mandibular continuity defects with bone morphogenetic protein-2 (rhBMP-2).
Amputation and adriamycin in primary osteosarcoma.
Phase II study of lapatinib in recurrent or metastatic epidermal growth factor receptor and/or erbB2 expressing adenoid cystic carcinoma and non adenoid cystic carcinoma malignant tumors of the salivary glands.
Metastatic tumors to the jawbones: analysis of 390 cases.
Emerging roles of deubiquitinases in cancer-associated pathways.
Treatment of nasal cavity and paranasal sinus cancer with modern radiotherapy techniques in the postoperative setting--the MSKCC experience.
Salivary gland tumours.
Antiangiogenic therapy of a recurrent giant cell tumor of the mandible with interferon alfa-2a.
Sinonasal intestinal-type adenocarcinoma: immunohistochemical profile and comparison with colonic adenocarcinoma.
THE AFRICAN LYMPHOMA: PRELIMINARY OBSERVATIONS ON RESPONSE TO THERAPY.
Mixed odontogenic tumours and odontomas. Considerations on interrelationship. Review of the literature and presentation of 134 new cases of odontomas.
Large scale molecular analysis identifies genes with altered expression in salivary adenoid cystic carcinoma.
Osteosarcoma of the jaw.
Odontogenic cyst giving rise to an adenomatoid odontogenic tumor: report of a case with peculiar features.
Greater superficial petrosal nerve: anatomy and MR findings in perineural tumor spread.
Factors influencing survival rate in adenoid cystic carcinoma of the salivary glands.
Assembly and initial characterization of a panel of 85 genomically validated cell lines from diverse head and neck tumor sites.
Beam path toxicities to non-target structures during intensity-modulated radiation therapy for head and neck cancer.
Extramedullary tumors of myeloid blasts in adults as a pattern of relapse following allogeneic bone marrow transplantation.
AN EPIDEMIOLOGIC APPROACH TO THE LYMPHOMAS OF AFRICAN CHILDREN AND BURKITT'S SACROMA OF THE JAWS.
Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck.
Endoscopic removal of the antral portion of antrochoanal polyp by powered instrumentation.
Osteosarcoma of the jaw. The Chaim Sheba Medical Center experience.
BURKITT TUMOR: TISSUE CULTURE, CYTOGENETIC AND VIRUS STUDIES.
Distant metastases of adenoid cystic carcinoma of the salivary glands and the value of diagnostic examinations during follow-up.
Growth and transplantation of a custom vascularised bone graft in a man.
Comparison of treatment plans using intensity-modulated radiotherapy and three-dimensional conformal radiotherapy for paranasal sinus carcinoma.
A STUDY OF MALIGNANT TUMOURS IN NIGERIA BY SHORT-TERM TISSUE CULTURE.
Adenoid cystic carcinoma of the maxillary sinus with gradual histologic transformation to high-grade adenocarcinoma: a comparative report with dedifferentiated carcinoma.
"Inflammatory pseudotumor": what is it? How does it behave?
Fatal hepatorenal failure associated with hydrazine sulfate.