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Clinical Immunology, ISSN 1521-6616, 2012, Volume 147, Issue 3, pp. 185 - 196
Journal Article
Archives de pédiatrie, ISSN 0929-693X, 05/2017, Volume 24, Issue 5, pp. 5S51 - 5S56
Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental mineralization. Although there is a continuum in the severity of the... 
Hypophosphatasia - genetics | Severity of Illness Index | France - epidemiology | Alkaline Phosphatase - genetics | Prevalence | Humans | Genotype | Biomarkers - blood | Mutation, Missense | Genetic Counseling | Inheritance Patterns | Hypophosphatasia - epidemiology | Alleles | Adult
Journal Article
Journal of Endodontics, ISSN 0099-2399, 2012, Volume 38, Issue 7, pp. 907 - 912
Abstract Introduction Mutations in the gene ALPL in hypophosphatasia (HPP) reduce the function of tissue nonspecific alkaline phosphatase, and the resulting... 
Endocrinology & Metabolism | Dentistry | pyrophosphate | Alkaline phosphatase | hypophosphatasia | dental pulp cells | dentin | TISSUE | CEMENTUM | FAMILY | OSTEOPONTIN | DOMINANT HYPOPHOSPHATASIA | DENTISTRY, ORAL SURGERY & MEDICINE | NONSPECIFIC ALKALINE-PHOSPHATASE | MICE | BINDING | Osteopontin - genetics | Sialoglycoproteins - genetics | Diphosphates - metabolism | Phosphoric Diester Hydrolases - biosynthesis | Diseases in Twins - genetics | Pyrophosphatases - biosynthesis | Extracellular Matrix Proteins - biosynthesis | Calcium - metabolism | Humans | Pyrophosphatases - genetics | Male | Mutation, Missense | Dentin - pathology | Case-Control Studies | Young Adult | Sialoglycoproteins - biosynthesis | Osteopontin - biosynthesis | Statistics, Nonparametric | Female | Phosphate Transport Proteins - genetics | Dental Pulp - physiopathology | Hypophosphatasia - pathology | Glycoproteins - genetics | Hypophosphatasia - genetics | Gene Expression | Alkaline Phosphatase - genetics | Odontoblasts - metabolism | Phosphoproteins - biosynthesis | Down-Regulation | Extracellular Matrix Proteins - genetics | Dental Pulp - cytology | Phosphate Transport Proteins - biosynthesis | Phosphoric Diester Hydrolases - genetics | Hypophosphatasia - physiopathology | Phosphoproteins - genetics | Tooth Calcification - genetics | Glycoproteins - biosynthesis | Analysis of Variance | Adolescent | Primary Cell Culture | Odontoblasts - pathology | Amino Acid Substitution | Phosphates | Phosphatases | Precipitation (Meteorology) | Gene expression | Genes
Journal Article
Human molecular genetics, ISSN 0964-6906, 10/2016, Volume 25, Issue 19, pp. 4143 - 4156
Journal Article
Journal of Inherited Metabolic Disease, ISSN 1573-2665, 12/2010, Volume 33, Issue S3, pp. 25 - 33
We describe two neonates presenting with perinatal hypophosphatasia and severe epileptic encephalopathy resulting in death. Both had increased levels of... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Hypophosphatasia - enzymology | Seizures - genetics | Vitamin B 6 Deficiency - enzymology | Humans | Alkaline Phosphatase - metabolism | Seizures - drug therapy | Male | Vitamin B 6 Deficiency - diagnosis | Hypoxia-Ischemia, Brain - genetics | Hypophosphatasia - diagnosis | Brain Diseases, Metabolic - diagnosis | Fatal Outcome | Pyridoxal Phosphate - deficiency | Female | Brain Diseases, Metabolic - enzymology | Infant, Newborn | Hypophosphatasia - genetics | Seizures - enzymology | Genetic Predisposition to Disease | Alkaline Phosphatase - genetics | Vitamin B 6 Deficiency - genetics | Brain Diseases, Metabolic - genetics | Vitamin B Complex - therapeutic use | Hypoxia-Ischemia, Brain - drug therapy | Pyridoxaminephosphate Oxidase - genetics | Anticonvulsants - therapeutic use | Seizures - diagnosis | Treatment Outcome | Hypoxia-Ischemia, Brain - enzymology | Brain Diseases, Metabolic - drug therapy | Hypophosphatasia - complications | Pyridoxaminephosphate Oxidase - deficiency | Hypoxia-Ischemia, Brain - diagnosis | Phenotype | Biogenic Monoamines - metabolism | Hypophosphatasia - drug therapy | Mutation | Vitamin B 6 Deficiency - drug therapy | Phosphates | Infants (Newborn) | Physiological aspects | Amino acids
Journal Article
Human Gene Therapy, ISSN 1043-0342, 12/2015, Volume 26, Issue 12, pp. 81 - 812
Journal Article