Infantile Hypophosphatasia

03/08/2012 - "We enrolled infants and young children with life-threatening or debilitating perinatal or infantile hypophosphatasia in a multinational, open-label study of treatment with ENB-0040. "
01/01/2019 - "Patients with perinatal or infantile hypophosphatasia treated with asfotase alfa for up to 7 years showed early, sustained improvements in skeletal mineralisation. "
01/01/2019 - "Asfotase alfa treatment in perinatal and infantile hypophosphatasia: safe and sustained efficacy."
01/01/2016 - "Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia."
01/01/2019 - "Our previous phase 2, open-label study of 11 infants and young children with life-threatening perinatal or infantile hypophosphatasia showed 1 year safety and efficacy of asfotase alfa, an enzyme replacement therapy. "

11/01/2002 - "Metabolic alterations gradually improved in both mother and daughter but bone-specific alkaline phosphatase remained low (less than 30% of normal) and mild phosphoethanolaminuria persisted. "
03/01/2016 - "Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia."
10/01/2014 - "Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia."
10/01/2013 - "[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene]."
11/01/2011 - "Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase."

01/01/1986 - "Our observations indicate that in one patient with infantile hypophosphatasia the structural gene for the tissue-nonspecific (bone/liver/kidney) AP isoenzyme was intact and could be expressed with marked physiologic effect. "
11/01/1995 - "Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations."
05/01/1987 - "Evidence that infantile hypophosphatasia may result from defective regulation of an intact structural gene for the tissue nonspecific (bone/liver/kidney) isoenzyme of alkaline phosphatase (TNSALP) was explored by studying physicochemical properties of ALP in sonicates of monolayers of cultured dermal fibroblasts from 7 patients (PT) and 5 age- and sex-matched control (CT) subjects. "
01/01/1987 - "Infantile hypophosphatasia fibroblasts proliferate normally in culture: evidence against a role for alkaline phosphatase (tissue nonspecific isoenzyme) in the regulation of cell growth and differentiation."
07/01/1983 - "Isoenzymes of alkaline phosphatase in infantile hypophosphatasia."

11/01/1986 - "We found that normal fibroblasts possess ecto-NTP pyrophosphatase and that infantile hypophosphatasia cell lines have normal activity and cellular distribution of this enzyme compared with cell lines derived from age-matched normal subjects. "
05/01/1989 - "To investigate these gene defects, we analyzed L/B/K ALP DNA, RNA, and enzyme activity in cultured dermal fibroblasts from 14 patients with perinatal or infantile hypophosphatasia and from 12 normal individuals. "
11/01/2009 - "The present study was designed to correlate differing glycosylation patterns of each BALP isoform with their catalytic activity towards presumptive physiological substrates and to compare those properties with two recombinant isoforms of the tissue-nonspecific ALP (TNALP) isozyme, i.e., TNALP-flag, used extensively for mutation analysis of hypophosphatasia mutations and sALP-FcD(10), a chimeric enzyme recently used as therapeutic drug in a mouse model of infantile hypophosphatasia. "

11/01/2009 - "The present study was designed to correlate differing glycosylation patterns of each BALP isoform with their catalytic activity towards presumptive physiological substrates and to compare those properties with two recombinant isoforms of the tissue-nonspecific ALP (TNALP) isozyme, i.e., TNALP-flag, used extensively for mutation analysis of hypophosphatasia mutations and sALP-FcD(10), a chimeric enzyme recently used as therapeutic drug in a mouse model of infantile hypophosphatasia. "

01/01/1990 - "Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia."
09/01/2016 - "Herein, we report the case of an infantile hypophosphatasia patient who presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected. "
09/01/2016 - "Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene."
01/01/2013 - "Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures."
03/01/2014 - "Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures."

02/01/2002 - "In the other (with infantile hypophosphatasia), no additional mutation was detected by DNA sequencing of all protein-coding exons. "
02/01/1993 - "[Molecular cloning of liver/bone/kidney-type alkaline phosphatase complementary and genomic DNA: analyses of its deficiency, infantile hypophosphatasia]."
05/01/1989 - "To investigate these gene defects, we analyzed L/B/K ALP DNA, RNA, and enzyme activity in cultured dermal fibroblasts from 14 patients with perinatal or infantile hypophosphatasia and from 12 normal individuals. "
11/01/1995 - "We successfully assessed a fetus at risk for lethal infantile hypophosphatasia using amniocyte DNA and allele-specific oligonucleotide (ASO) probes for two missense mutations in the tissue-non-specific alkaline phosphatase isoenzyme (TNSALP) gene. "

05/01/2017 - "This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. "
01/01/2020 - "Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. "
06/01/2006 - "To determine the "tissue-nonspecific" isoenzyme of alkaline phosphatase (TNSALP) defect underlying transiently reversible and variably lethal infantile hypophosphatasia (HPP) in a kindred and to characterize HPP prevalence in black people. "

01/01/2001 - "While abnormal metabolism of vitamin B6 explains many of the abnormalities in this mouse model of infantile hypophosphatasia, it is not the basis of the abnormal mineralization that characterizes this disease."
01/01/2015 - "Conventional TNAP knockout mice die before weaning and show vitamin B6 dependent epilepsy and impaired bone mineralization, mimicking infantile hypophosphatasia. "

02/01/2018 - "Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report."
04/01/2011 - "TNALP-null mice (Akp2(-/-)) phenocopy human infantile hypophosphatasia; they develop rickets at 1 week of age, and die before being weaned, having severe skeletal and dental hypomineralization and episodes of apnea and vitamin B(6)-responsive seizures. "

02/10/2023 - "Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports."
09/01/2020 - "Effects of Enzyme Replacement Therapy for Primary Teeth in a Patient with Infantile Hypophosphatasia."
01/01/2017 - "Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia."
01/01/2019 - "Our previous phase 2, open-label study of 11 infants and young children with life-threatening perinatal or infantile hypophosphatasia showed 1 year safety and efficacy of asfotase alfa, an enzyme replacement therapy. "
01/01/1986 - "After a 3-month course of weekly intravenous infusions of pooled normal plasma in an attempt at enzyme replacement therapy, we observed gradual and prolonged normalization of circulating alkaline phosphatase (AP) activity in a boy with infantile hypophosphatasia. "

11/01/2021 - "Conclusion The oral health of children with early onset infantile hypophosphatasia may be improved with early and continued administration of ERT, compared to institution of therapy later in childhood."
08/01/2007 - "Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts."
12/01/1979 - "Hyperparathyroidism and infantile hypophosphatasia: effect of prednisone and vitamin K therapy."

08/01/2007 - "Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts."

01/01/1986 - "After a 3-month course of weekly intravenous infusions of pooled normal plasma in an attempt at enzyme replacement therapy, we observed gradual and prolonged normalization of circulating alkaline phosphatase (AP) activity in a boy with infantile hypophosphatasia. "
12/01/1984 - "Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients."
09/01/1982 - "Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease."

04/01/2003 - "Marrow cell transplantation for infantile hypophosphatasia."