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Childhood hypophosphatasia: to treat or not to treat.
Rush ET. Rush ET. Orphanet J Rare Dis. 2018 Jul 16;13(1):116. doi: 10.1186/s13023-018-0866-7. Orphanet J Rare Dis. 2018. PMID: 30012160 Free PMC article. Review.
MAIN DOCUMENT: Asfotase alfa (Strensiq), is a first-in-class bone-targeted recombinant tissue nonspecific alkaline phosphatase which has shown significant improvements in morbidity and mortality in patients with perinatal and infantile hypophosphatasia. Subsequent r …
MAIN DOCUMENT: Asfotase alfa (Strensiq), is a first-in-class bone-targeted recombinant tissue nonspecific alkaline phosphatase which has sho …
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
Whyte MP, Leung E, Wilcox WR, Liese J, Argente J, Martos-Moreno GÁ, Reeves A, Fujita KP, Moseley S, Hofmann C; Study 011-10 Investigators. Whyte MP, et al. J Pediatr. 2019 Jun;209:116-124.e4. doi: 10.1016/j.jpeds.2019.01.049. Epub 2019 Apr 9. J Pediatr. 2019. PMID: 30979546 Free article.
OBJECTIVE: To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patients with perinatal and infantile hypophosphatasia. ...TRIAL REGISTRATION: ClinicalTrials.gov: NCT01419028....
OBJECTIVE: To report clinical characteristics and medical history data obtained retrospectively for a large cohort of pediatric patie …
Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.
Kim I, Noh ES, Kim MS, Jang JH, Jeon TY, Choi HW, Cho SY. Kim I, et al. Medicine (Baltimore). 2023 Feb 10;102(6):e32800. doi: 10.1097/MD.0000000000032800. Medicine (Baltimore). 2023. PMID: 36820543 Free PMC article.
CONCLUSION: Among the 2 patients, the patient who started ERT early had a much better prognosis despite a more severe initial clinical presentation. Our results suggest that early diagnosis and prompt treatment play an important role in improving long-term prognosis and av …
CONCLUSION: Among the 2 patients, the patient who started ERT early had a much better prognosis despite a more severe initial clinical …
Characterization of tracheobronchomalacia in infants with hypophosphatasia.
Padidela R, Yates R, Benscoter D, McPhail G, Chan E, Nichani J, Mughal MZ, Myer C 4th, Narayan O, Nissenbaum C, Wilkinson S, Zhou S, Saal HM. Padidela R, et al. Orphanet J Rare Dis. 2020 Aug 6;15(1):204. doi: 10.1186/s13023-020-01483-9. Orphanet J Rare Dis. 2020. PMID: 32762706 Free PMC article.
BACKGROUND: Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complications. ...The objective of this study is to characterize the clinical features, investigations and management in these patients. ...
BACKGROUND: Perinatal and infantile hypophosphatasia (HPP) are associated with respiratory failure and respiratory complicatio …
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.
Stockler S, Plecko B, Gospe SM Jr, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Stockler S, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):48-60. doi: 10.1016/j.ymgme.2011.05.014. Epub 2011 May 24. Mol Genet Metab. 2011. PMID: 21704546 Review.
The differential diagnosis of pyridoxine or PLP responsive seizure disorders includes PLP-responsive epileptic encephalopathy due to PNPO deficiency, neonatal/infantile hypophosphatasia (TNSALP deficiency), familial hyperphosphatasia (PIGV deficiency), as well as ye …
The differential diagnosis of pyridoxine or PLP responsive seizure disorders includes PLP-responsive epileptic encephalopathy due to PNPO de …
Dental outcomes for children receiving asfotase alfa for hypophosphatasia.
Schroth RJ, Long C, Lee VHK, Alai-Towfigh H, Rockman-Greenberg C. Schroth RJ, et al. Bone. 2021 Nov;152:116089. doi: 10.1016/j.bone.2021.116089. Epub 2021 Jun 25. Bone. 2021. PMID: 34175501
OBJECTIVES: To review development and exfoliation patterns of primary/permanent teeth in a cohort of patients with hypophosphatasia enrolled in an open-label clinical trial of enzyme replacement therapy (ERT) with asfotase alfa. METHODS: Data were collected from exi …
OBJECTIVES: To review development and exfoliation patterns of primary/permanent teeth in a cohort of patients with hypophosphatasia enrolled …
Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene.
Güzel Nur B, Çelmeli G, Manguoğlu E, Soyucen E, Bircan İ, Mıhçı E. Güzel Nur B, et al. J Clin Res Pediatr Endocrinol. 2016 Sep 1;8(3):360-4. doi: 10.4274/jcrpe.2798. Epub 2016 Apr 18. J Clin Res Pediatr Endocrinol. 2016. PMID: 27086862 Free PMC article.
Severe forms may present with many neurological problems such as seizures, hypotonia, irritability. 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 …
Severe forms may present with many neurological problems such as seizures, hypotonia, irritability. Herein, we report the case of an infa …
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, Van Sickle BJ, Simmons JH, Edgar TS, Bauer ML, Hamdan MA, Bishop N, Lutz RE, McGinn M, Craig S, Moore JN, Taylor JW, Cleveland RH, Cranley WR, Lim R, Thacher TD, Mayhew JE, Downs M, Millán JL, Skrinar AM, Crine P, Landy H. Whyte MP, et al. N Engl J Med. 2012 Mar 8;366(10):904-13. doi: 10.1056/NEJMoa1106173. N Engl J Med. 2012. PMID: 22397652 Free article. Clinical Trial.
METHODS: 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. ...Low titers of anti-ENB-0040 antibodies developed in four patients, with …
METHODS: We enrolled infants and young children with life-threatening or debilitating perinatal or infantile hypophosphatasia …
Asfotase alfa for infants and young children with hypophosphatasia: 7 year outcomes of a single-arm, open-label, phase 2 extension trial.
Whyte MP, Simmons JH, Moseley S, Fujita KP, Bishop N, Salman NJ, Taylor J, Phillips D, McGinn M, McAlister WH. Whyte MP, et al. Lancet Diabetes Endocrinol. 2019 Feb;7(2):93-105. doi: 10.1016/S2213-8587(18)30307-3. Epub 2018 Dec 14. Lancet Diabetes Endocrinol. 2019. PMID: 30558909 Free article. Clinical Trial.
BACKGROUND: 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. ...METHODS: We did a prespecified, en …
BACKGROUND: Our previous phase 2, open-label study of 11 infants and young children with life-threatening perinatal or infantile h …
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