Keywords: هیپوفسفاتزی; Testosterone; Alkaline Phosphatase; asfotase alfa; Juvenile hypophosphatasia; ALP; Alkaline phosphatase; HPP; Hypophosphatasia; LC-MS/MS; Liquid chromatography-mass spectrometry/mass spectrometry; RIA; Radioimmunoassay; SHBG; Sex hormone binding globuli
مقالات ISI هیپوفسفاتزی (ترجمه نشده)
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Keywords: هیپوفسفاتزی; asfotase alfa; clinical outcomes; hypophosphatasia; rare disease;
Keywords: هیپوفسفاتزی; achondroplasia; hypophosphatasia; next generation sequencing; osteochondrodysplasia; pseudoachondroplasia; radiology; skeletal dysplasia; spondyloepiphyseal dysplasia congenita;
Keywords: هیپوفسفاتزی; Hypophosphatasia; Hypo-mineralization; Alkaline phosphatase; Asfotase alfa; Hipofosfatasia; Hipomineralización; Fosfatasa alcalina; Asfotasa alfa;
Keywords: هیپوفسفاتزی; BMD; bone mineral density; DKK; dickkopf; GWASs; genome-wide association studies; IOF; International Osteoporosis Foundation; IRDiRC; International Rare Diseases Research Consortium; ISDS; International Skeletal Dysplasia Society; OMIM; Online Mendelian I
Keywords: هیپوفسفاتزی; 5â² UTR; 5â² untranslated region; 3â² UTR; 3â² untranslated region; ALPL; alkaline phosphatase liver-type; AP; alkaline phosphatase; CKD; chronic kidney disease; DNE; dominant negative effect; ECM; extracellular matrix; ERT; enzyme replacement therapy
Keywords: هیپوفسفاتزی; Hypophosphatasia; Enzyme replacement therapy; Primary teeth; Disturbed cementum formation; Hypomineralization;
Keywords: هیپوفسفاتزی; Hypophosphatasia; Early exfoliation; Hypo-mineralization; Disturbed cementum; Permanent teeth;
Keywords: هیپوفسفاتزی; Enzyme replacement therapy; Alkaline phosphatase; Tissue-nonspecific alkaline phosphatase; Asfotase alfa; Hypophosphatasia; Metabolic bone diseases; Therapeutic drug monitoring;
Keywords: هیپوفسفاتزی; SIBLING; Small Integrin-Binding Ligand N-linked Glycoprotein; BSP; bone sialoprotein; OPN; osteopontin; TNAP; tissue-nonspecific alkaline phosphatase; PPi; inorganic pyrophosphate; ANK; progressive ankylosis protein; ENPP1; ectonucleotide pyrophosphatase
Keywords: هیپوفسفاتزی; ADL; activities of daily living; BOT-2; Bruininks-Oseretsky Test of Motor Proficiency, Second Edition; CHAQ; Childhood Health Assessment Questionnaire; FLACC; Face, Legs, Activity, Cry, Consolability Scale; HPP; hypophosphatasia; N-PASS; Neonatal Pain, Ag
Keywords: هیپوفسفاتزی; Alkaline phosphatase; Hypophosphatasia; Mutation analysis; Pyridoxal phosphate; Phosphoethanolamine; ALPL
Keywords: هیپوفسفاتزی; Hypophosphatasia; Metabolic bone disease; Burden of illness; Patient reported outcomesCPAP, continuous positive airway pressure; HIPS, Hypophosphatasia Impact Patient Survey; HOST, Hypophosphatasia Outcomes Study Telephone Interview; HPP, hypophosphatasia
Keywords: هیپوفسفاتزی; Hypophosphatasia; NGS; Differential diagnosis; Osteogenesis imperfecta
Keywords: هیپوفسفاتزی; ALP; alkaline phosphatase; ER; endoplasmic reticulum; Endo H; endo-β-N-acetylglucosaminidase H; DOX; doxycycline; GPI; glycosylphosphatidylinositol; HPP; hypophosphatasia; PI-PLC; phosphatidylinositol-specific phospholipase C; PNGase F; peptide-N-glycosi
Keywords: هیپوفسفاتزی; Gene; Mutation; Hypophosphatasia; Hormone; Adrenal; Vitamin D; PTH; Thyroid; Gonad; Pituitary;
Keywords: هیپوفسفاتزی; Alkaline phosphatase; Bone; Glycosylation; Hypophosphatasia; Knockout mice; Mineralization;
Keywords: هیپوفسفاتزی; HPP, hypophosphatasia; PEA, phosphoethanolamine; PLP, pyridoxal-5′-phosphate; PPi, inorganic pyrophosphate; TNSALP, tissue-nonspecific isoenzyme of alkaline phosphataseAlkaline phosphatase; Costochondritis; Fractures; Hypophosphatasia; Pain
Keywords: هیپوفسفاتزی; Hypophosphatasia; Odontohypophosphatasia; Premature tooth loss; Metabolic bone disease; Tissue-nonspecific alkaline phosphatase
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice
Keywords: هیپوفسفاتزی; Hypophosphatasia; Alkaline phosphatase; ALPL; Skeletal dysplasia; Enzyme replacement therapy; Asfotase alfa; Orphan drug;
Enzyme-replacement therapy in perinatal hypophosphatasia: Case report and review of the literature
Keywords: هیپوفسفاتزی; Perinatal hypophosphatasia; Asfotase alfa; Respiratory insufficiency; Craniosynostosis; Nephrocalcinosis; Bone hypomineralization; CPAP; Continuous positive airway pressure; ERT; Enzyme-replacement therapy; HPP; Hypophosphatasia; TNSAL; tissue-nonspecific
Repeatedly low plasma alkaline phosphatase in a 56-year-old woman. A case of hypophosphatasia diagnosed in adulthood
Keywords: هیپوفسفاتزی; HPP; hypophosphatasia; ALP; alkaline phosphatase; P-ALP; plasma alkaline phosphatase; TNSALP; the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase; ALPL; synonym to TNSALP; PPi; inorganic pyrophosphate; PLP; pyridoxal 5´-phosphate;
Hipofosfatasia: manifestaciones clÃnicas, recomendaciones diagnósticas y opciones terapéuticas
Keywords: هیپوفسفاتزی; Hipofosfatasia; Hipomineralización; Fosfatasa alcalina; Asfotasa alfa; Hypophosphatasia; Hypo-mineralisation; Alkaline phosphatase; Asfotase alfa;
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia
Keywords: هیپوفسفاتزی; Hypophosphatasia; Alkaline phosphatase; Intron deletion; Splicing; Branch-point; Transcript variant;
Hypophosphatasia: An overview For 2017
Keywords: هیپوفسفاتزی; Alkaline phosphatase; Hypophosphatasia; Inorganic pyrophosphate; Osteomalacia; Rickets;
Hypophosphatasia: Natural history study of 101 affected children investigated at one research center
Keywords: هیپوفسفاتزی; ALP; alkaline phosphatase; BMD; bone mineral density; CDC; Centers for Disease Control and Prevention; DXA; dual-energy X-ray absorptiometry; HPP; hypophosphatasia; NIH; National Institutes of Health; PPi; inorganic pyrophosphate; SAS; Statistical Analysi
Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl−/− mice by administration of soluble (non-targeted) chimeric alkaline phosphatase
Keywords: هیپوفسفاتزی; ChimAP, chimeric alkaline phosphatase; PL, pyridoxal; PLP, pyridoxal phosphate; TNAP, tissue-nonspecific alkaline phosphatase; PDL, periodontal ligament; PPi, inorganic pyrophosphateEnzyme replacement; Hypophosphatasia; Rickets; Osteomalacia; Craniosynost
Overexpression of tissue-nonspecific alkaline phosphatase increases the expression of neurogenic differentiation markers in the human SH-SY5Y neuroblastoma cell line
Keywords: هیپوفسفاتزی; 36B4; ribosomal protein, large, P0; AADC; aromatic l-amino acid decarboxylase; AD; Alzheimer's disease; ALPL/TNAP/Akp2; tissue-nonspecific alkaline phosphatase; AT; annealing temperature; ATP; adenosine triphosphate; ADP; adenosine diphosphate; AMP; adeno
The lipid raft-bound alkaline phosphatase activity increases and the level of transcripts remains unaffected in liver of merosin-deficient LAMA2dy mouse
Keywords: هیپوفسفاتزی; Glycosylation; Hypophosphatasia; Heat deactivation; Muscular dystrophy; Oligomerization
Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alplâ/â mouse model of infantile hypophosphatasia
Keywords: هیپوفسفاتزی; TNAP; tissue-nonspecific alkaline phosphatase; HPP; hypophosphatasia; FGFR; fibroblast growth factor receptor; micro-CT; micro-computed tomography; OPN; osteopontin; Bone; Disorders of phosphate; Animal models; Craniofacial; Micro-CT (μCT);
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia
Keywords: هیپوفسفاتزی; ALP; alkaline phosphatase; asparagine (417); asparagine at position 417 of TNSALP; ER; endoplasmic reticulum; Endo H; endo-β-N-acetylglucosaminidase H; GPI; glycosylphosphatidylinositol; HPP; hypophosphatasia; PI-PLC; phosphatidylinositol-specific phosph
Clinical spectrum of hypophosphatasia diagnosed in adultsâ
Keywords: هیپوفسفاتزی; AP; alkaline phosphatase; CPPD; calcium pyrophosphate deposition disease; HPP; hypophosphatasia; OS; osteoid covered surface; OV; osteoid volume; OW; osteoid width; PEA; phosphoethanolamine; PLP; pyridoxal 5â²-phosphate; PPi; inorganic pyrophosphate; TNS
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype
Keywords: هیپوفسفاتزی; Hypophosphatasia; Odontohypophosphatasia; Tissue non-specific alkaline phosphatase; ALPL; Collagen-binding site; Compound heterozygous mutations;
Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia
Keywords: هیپوفسفاتزی; Tissue-nonspecific alkaline phosphatase; ALPL; Hypophosphatasia; Encephalopathy
Autoinflammatory bone disorders
Keywords: هیپوفسفاتزی; Chronic non-bacterial osteomyelitis; Chronic recurrent multifocal osteomyelitis; Hypophosphatasia; Cherubism; Primary hypertrophic osteoarthropathy; Autoinflammation
Hypophosphatasia-associated Deficiencies in Mineralization and Gene Expression in Cultured Dental Pulp Cells Obtained from Human Teeth
Keywords: هیپوفسفاتزی; Alkaline phosphatase; dental pulp cells; dentin; hypophosphatasia; pyrophosphate;
Dual-Energy X-Ray Absorptiometry Interpretation: A Simple Equation for Height Correction in Preteenage Children
Keywords: هیپوفسفاتزی; Bone modeling; densitometry; hypophosphatasia; osteoporosis; rickets;
Identification of the Mutations in the Tissue-nonspecific Alkaline Phosphatase Gene in Two Chinese Families with Hypophosphatasia
Keywords: هیپوفسفاتزی; Hypophosphatasia; Bone disease; Alkaline phosphatase; ALPL gene; Mutation
Diagnóstico y tratamiento de la osteomalacia por el reumatólogo
Keywords: هیپوفسفاتزی; Osteomalacia; Hipovitaminosis D; Osteomalacia hipofosfatémica; Factor de crecimiento de los fibroblastos 23; Hipofosfatasia; RaquitismoOsteomalacia; Vitamin D deficiency; Hypophosphatemic osteomalacia; Fibroblast growth factor 23; Hypophosphatasia; Ricket
Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene
Keywords: هیپوفسفاتزی; Tissue-nonspecific alkaline phosphatase; ALPL; Hypophosphatasia; Dominant negative effect; Transcript variants; Polymorphism
Layer-specific activity of tissue non-specific alkaline phosphatase in the human neocortex
Keywords: هیپوفسفاتزی; layer 5; neurotransmitter; Alzheimer disease; hypophosphatasia; epilepsy; B6-dependent enzymes; AADC; aromatic L-amino acid decarboxylase; BA; Brodman area; GABA; gamma-amino-butiric acid; NF; neurofilaments; OD; optical density; PLP; pyridoxal-5â²-phosp
Génétique et métabolisme osseux
Keywords: هیپوفسفاتزی; Ostéoporose; Gène candidat; Rachitisme héréditaire hypophosphatémique; Hypophosphatasie; Osteoporosis; Candidate gene; Hyphophosphatemic rickets; Hypophosphatasia;
Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia
Keywords: هیپوفسفاتزی; Hypophosphatasia; Phenotype; ALPL mutation
Glycosylation differences contribute to distinct catalytic properties among bone alkaline phosphatase isoforms
Keywords: هیپوفسفاتزی; Bone turnover; Glycosylation; Hypophosphatasia; Kinetics; Pyrophosphate
Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells
Keywords: هیپوفسفاتزی; Tissue-nonspecific alkaline phosphatase; Hypophosphatasia; U2OS cells; Mineralization
Hypophosphatasia
Keywords: هیپوفسفاتزی; hypophosphatasia; review; ALPL gene; alkaline phosphatase; bone disease; mineralization; mutations
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia
Keywords: هیپوفسفاتزی; Hypophosphatasia; Mineralization; Phenotype–genotype correlation; Membrane anchoring; Missense mutation
Analysis of the periodontal microbiota in childhood-type hypophosphatasia
Keywords: هیپوفسفاتزی; Periodontitis; Hypophosphatasia; 16s rRNA; Subgingival microbiota
Enhancement of drug delivery to bone: Characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide
Keywords: هیپوفسفاتزی; Hypophosphatasia; Drug delivery system; Alkaline phosphatase
Hypophosphatasia in Taiwan: Report of Two Cases
Keywords: هیپوفسفاتزی; hypophosphatasia; alkaline phosphatase;