Condition: Infantile hypophosphatasia


rs1054159992 in ALPL gene and Infantile hypophosphatasia PMID 8954059 1996 Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.

PMID 10834525 2000 Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene.

PMID 11438998 2001 Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia.

PMID 7833929 1994 Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia.

PMID 24100244 2014 Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.

PMID 24145968 2014 Benign prenatal hypophosphatasia: a treatable disease not to be missed.

PMID 15694177 2005 Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.

PMID 26783040 2016 Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.

PMID 18925618 2008 Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.

PMID 23509830 2012 Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.

PMID 3174660 1988 A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia.

PMID 12162492 2002 Kinetic characterization of hypophosphatasia mutations with physiological substrates.

PMID 9562633 1998 Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

PMID 10839996 2000 Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia.

PMID 19500388 2009 Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

PMID 20383509 2011 Whole-body MRI in the childhood form of hypophosphatasia.

PMID 28401263 2017 Mutational and biochemical findings in adults with persistent hypophosphatasemia.

PMID 1409720 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

PMID 11855933 2002 Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia.

PMID 19232125 2009 Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.

PMID 10679946 2000 Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.

PMID 10332035 1999 Correlations of genotype and phenotype in hypophosphatasia.

PMID 11479741 2001 A molecular approach to dominance in hypophosphatasia.

PMID 17922851 2008 A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.

PMID 22397652 2012 Enzyme-replacement therapy in life-threatening hypophosphatasia.

PMID 21713987 2011 Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

PMID 18769927 2009 Neurosurgical aspects of childhood hypophosphatasia.

PMID 8406453 1993 A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites.

PMID 9618260 1998 Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia.

PMID 9781036 1998 Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia.

PMID 24569605 2014 Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

PMID 12638946 2002 G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family.

PMID 9452105 1998 Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients.

PMID 15660230 2005 The genotype-phenotype relationship was, to some extent, consistent with the enzymatic activity of the mutant ALP proteins; mutations K207E and G409C found in a surviving case of infantile hypophosphatasia, as well as F310L, retained some residual activities, whereas T1559del caused a complete loss of activity.

PMID 24276437 2014 Clinical and genetic aspects of hypophosphatasia in Japanese patients.

PMID 15137467 2004 These results suggest that the protein translated from the mutant F310L, in addition to the mutant V365I, may be responsible for the expression of symptoms of the childhood-type HOPS.

PMID 18455459 2008 Functional assay of the mutant tissue-nonspecific alkaline phosphatase gene using U2OS osteoblast-like cells.

PMID 25731960 2015 Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.

PMID 10094560 1999 Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. Online.

PMID 28506345 2017 [Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis].

PMID 29236161 2018 Genetic analysis of adults heterozygous for ALPL mutations.

PMID 28127875 2017 Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

PMID 21168482 2011 Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.

PMID 28436937 2017 Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.

PMID 23688511 2013 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.

PMID 11745997 2001 Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.

PMID 18559907 2008 Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement.

PMID 20049532 2010 Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.

PMID 26459154 2016 Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.

PMID 27179278 2016 Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

PMID 25736332 2015 Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment.

PMID 15135428 2004 [Childhood hypophosphatasia: a case report due to a novel mutation].

PMID 17719863 2007 Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

PMID 12815606 2003 Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.

PMID 27312557 2016 First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

PMID 28939177 2018 Hypophosphatasia.

PMID 21956185 2012 Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.

PMID 16583935 2006 [Hypophosphatasia: report of two affected girls with spontaneous improvement of skeletal defects].

PMID 17253930 2006 Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments.

PMID 15660230 2005 Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.

PMID 20924064 2010 Genetic etiology and dental pulp cell deficiency of hypophosphatasia.

PMID 18523927 2009 Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain?

PMID 15300736 2004 Positive maternal serum triple test screening in severe early onset hypophosphatasia.

PMID 15794757 2005 Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation.

PMID 23926372 2010 Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases.

PMID 16769381 2006 Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry.

PMID 26432670 2015 Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

PMID 22014174 2012 Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells.

PMID 11760847 2001 Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

PMID 23454488 2013 Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.

PMID 11810413 2002 Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.

PMID 15137467 2004 These results suggest that the protein translated from the mutant F310L, in addition to the mutant V365I, may be responsible for the expression of symptoms of the childhood-type HOPS.

PMID 15840803 2005 Mild hypophosphatasia in utero: bent bones in a family with dental disease.

PMID 23580367 2013 Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis.

PMID 28663156 2017 Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.

PMID 11999978 2002 Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.

PMID 17409132 2007 Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia.

PMID 18386808 2008 Specific ultrasonographic features of perinatal lethal hypophosphatasia.

PMID 19335222 2009 Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.