Found: 36
Select item for more details and to access through your institution.
Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 6, p. 851, doi. 10.1007/s00431-012-1868-4
- By:
- Publication type:
- Article
Hypophosphatasia may lead to bone fragility: don't miss it.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Severe cleidocranial dysplasia can mimic hypophosphatasia.
- Published in:
- European Journal of Pediatrics, 2002, v. 161, n. 11, p. 623, doi. 10.1007/s00431-002-0978-9
- By:
- Publication type:
- Article
The intermediate alleles of the fragile X CGG repeat in patients with mental retardation.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 3, p. 200, doi. 10.1111/j.1399-0004.1998.tb02676.x
- By:
- Publication type:
- Article
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-6
- By:
- Publication type:
- Article
Hypophosphatasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 40, doi. 10.1186/1750-1172-2-40
- By:
- Publication type:
- Article
Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2011, v. 37, n. 10, p. 1470, doi. 10.1111/j.1447-0756.2011.01526.x
- By:
- Publication type:
- Article
Parathyroid Hormone Treatment Improves Pain and Fracture Healing in Adult Hypophosphatasia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 12, p. 5174, doi. 10.1210/jc.2010-1168
- By:
- Publication type:
- Article
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 8, p. 755, doi. 10.1002/(SICI)1097-0223(199908)19:8<755::AID-PD629>3.0.CO;2-#
- By:
- Publication type:
- Article
Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Parental origin of the extra chromosome in prenatally diagnosed fetal trisomy 21.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 340, doi. 10.1007/s004390051047
- By:
- Publication type:
- Article
A 3D model of human P450c21: study of the putative effects of steroid 21-hydroxylase gene mutations.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 330, doi. 10.1007/s004390051046
- By:
- Publication type:
- Article
Characterization of a family with dominant hypophosphatasia.
- Published in:
- European Journal of Oral Sciences, 2000, v. 108, n. 3, p. 189, doi. 10.1034/j.1600-0722.2000.108003189.x
- By:
- Publication type:
- Article
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 10, p. 1160, doi. 10.1038/ejhg.2014.10
- By:
- Publication type:
- Article
Clinical utility gene card for: Hypophosphatasia - update 2013.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.177
- By:
- Publication type:
- Article
Clinical utility gene card for: hypophosphatasia.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 1, doi. 10.1038/ejhg.2010.170
- By:
- Publication type:
- Article
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia.
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 10, p. 666, doi. 10.1038/sj.ejhg.5200857
- By:
- Publication type:
- Article
BIPHOSPHONATES IN HYPOPHOSPHATASIA: NOT THE EVIL?
- Published in:
- Bulletin du Girso, 2012, v. 51, n. 1, p. e41
- By:
- Publication type:
- Article
GROWTH HORMONE INCREASES GROWTH VELOCITY AND ALKALINE PHOSPHATASE LEVEL IN CHILDREN WITH HYPOPHOSPHATASIA.
- Published in:
- Bulletin du Girso, 2012, v. 51, n. 1, p. e40
- By:
- Publication type:
- Article
PREGNANCY FAILURE AND ALKALINE PHOSPHATASES: FROM MOUSE GENETICS TO HUMAN DISEASE.
- Published in:
- Bulletin du Girso, 2012, v. 51, n. 1, p. e30
- By:
- Publication type:
- Article
SIXTH INTERNATIONAL ALKALINE PHOSPHATASE and HYPOPHOSPHATASIA SYMPOSIUM.
- Published in:
- Bulletin du Girso, 2012, v. 51, n. 1, p. e1
- By:
- Publication type:
- Article
Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene.
- Published in:
- Collegium Antropologicum, 2009, v. 33, n. 4, p. 1255
- By:
- Publication type:
- Article
A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population.
- Published in:
- Annals of Human Genetics, 2011, v. 75, n. 3, p. 439, doi. 10.1111/j.1469-1809.2011.00642.x
- By:
- Publication type:
- Article
Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis.
- Published in:
- Journal of Neurochemistry, 2017, v. 140, n. 6, p. 919, doi. 10.1111/jnc.13950
- By:
- Publication type:
- Article
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.
- Published in:
- BMC Pediatrics, 2007, v. 7, p. 3, doi. 10.1186/1471-2431-7-3
- By:
- Publication type:
- Article
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co‐factor pyridoxal‐5′‐phosphate availability.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 25, doi. 10.1007/s10545-009-9012-y
- By:
- Publication type:
- Article
Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues.
- Published in:
- Cell & Tissue Research, 2011, v. 343, n. 3, p. 521, doi. 10.1007/s00441-010-1111-4
- By:
- Publication type:
- Article
Corrigendum to 'Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome' Am J Med Genet 152A: 1661-1669.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1215, doi. 10.1002/ajmg.a.33680
- By:
- Publication type:
- Article
Positive maternal serum triple test screening in severe early onset hypophosphatasia.
- Published in:
- Prenatal Diagnosis, 2004, v. 24, n. 7, p. 494, doi. 10.1002/pd.859
- By:
- Publication type:
- Article
Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene.
- Published in:
- Prenatal Diagnosis, 2003, v. 23, n. 9, p. 743, doi. 10.1002/pd.696
- By:
- Publication type:
- Article
Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
- Published in:
- Human Mutation, 2020, v. 41, n. 7, p. 1250, doi. 10.1002/humu.24010
- By:
- Publication type:
- Article
Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment.
- Published in:
- Acta Paediatrica, 2011, v. 100, n. 7, p. e43, doi. 10.1111/j.1651-2227.2011.02228.x
- By:
- Publication type:
- Article
Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene.
- Published in:
- Human Mutation, 2000, v. 15, n. 4, p. 309, doi. 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C
- By:
- Publication type:
- Article
Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
- Published in:
- Human Mutation, 1995, v. 5, n. 2, p. 126, doi. 10.1002/humu.1380050205
- By:
- Publication type:
- Article
The ΔF508 mutation in mild adult forms of cystic fibrosis (CF).
- Published in:
- Clinical Genetics, 1991, v. 39, n. 4, p. 304, doi. 10.1111/j.1399-0004.1991.tb03030.x
- By:
- Publication type:
- Article