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Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.
Falsaperla R, Sciuto L, La Spina L, Sciuto S, Praticò AD, Ruggieri M. Falsaperla R, et al. Metab Brain Dis. 2021 Dec;36(8):2195-2203. doi: 10.1007/s11011-021-00798-1. Epub 2021 Aug 17. Metab Brain Dis. 2021. PMID: 34403026 Free PMC article. Review.
Nowadays, Expanded Newborn Screening (ENS) has changed the natural history of some IEMs allowing a rapid diagnosis and a prompt onset of specific therapy; nevertheless, not all IEMs are detected by such screening (e.g. Molybdenum-Cofactor Deficiency, Hypophosphatasia, GLUT …
Nowadays, Expanded Newborn Screening (ENS) has changed the natural history of some IEMs allowing a rapid diagnosis and a prompt onset of spe …
Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective.
Bloch-Zupan A. Bloch-Zupan A. Int J Paediatr Dent. 2016 Nov;26(6):426-438. doi: 10.1111/ipd.12232. Epub 2016 Mar 31. Int J Paediatr Dent. 2016. PMID: 27030892 Review.
BACKGROUND: Hypophosphatasia (HPP) is a rare inherited metabolic disease in which mutations in the ALPL gene (encoding tissue-nonspecific alkaline phosphatase) result in varying degrees of enzyme deficiency. ...
BACKGROUND: Hypophosphatasia (HPP) is a rare inherited metabolic disease in which mutations in the ALPL gene (encoding tissue-nonspec …
Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM. Faruqi T, et al. Biomed Res Int. 2014;2014:670842. doi: 10.1155/2014/670842. Epub 2014 Oct 22. Biomed Res Int. 2014. PMID: 25530967 Free PMC article. Review.
This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, cra …
This systematic review explored current literature on therapeutic directions for the following rare genetic bone disorders: fibrous dysplasi …
The Genetics of Atypical Femur Fractures-a Systematic Review.
Zhou W, van Rooij JGJ, Ebeling PR, Verkerk AJMH, Zillikens MC. Zhou W, et al. Curr Osteoporos Rep. 2021 Apr;19(2):123-130. doi: 10.1007/s11914-021-00658-y. Epub 2021 Feb 15. Curr Osteoporos Rep. 2021. PMID: 33587247 Free PMC article.
RECENT FINDINGS: AFF has been reported in 57 patients with seven different monogenic bone disorders including hypophosphatasia and osteogenesis imperfecta; 56.1% had never used BPs, while 17.5% were diagnosed with the disorder only after the AFF. ...
RECENT FINDINGS: AFF has been reported in 57 patients with seven different monogenic bone disorders including hypophosphatasia and os …
Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review.
Szabo SM, Tomazos IC, Petryk A, Powell LC, Donato BMK, Zarate YA, Tiulpakov A, Martos-Moreno GÁ. Szabo SM, et al. Orphanet J Rare Dis. 2019 Apr 25;14(1):85. doi: 10.1186/s13023-019-1062-0. Orphanet J Rare Dis. 2019. PMID: 31023354 Free PMC article.
BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficiency, characterized by bone mineralization defects and systemic complications. ...
BACKGROUND: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by tissue-nonspecific alkaline phosphatase deficien …
The impact of enzyme replacement therapy on the oral health manifestations of hypophosphatasia among children: a scoping review.
Smart G, Jensen ED, Poirier BF, Sethi S. Smart G, et al. Eur Arch Paediatr Dent. 2023 Aug;24(4):429-440. doi: 10.1007/s40368-023-00796-0. Epub 2023 Apr 10. Eur Arch Paediatr Dent. 2023. PMID: 37036643
PURPOSE: A scoping review to describe the use of enzyme replacement therapy (ERT) in the form of asfotase alfa to decrease the severity of oral manifestations in children with hypophosphatasia (HPP). METHODS: Six databases were searched using keywords and index terms relat …
PURPOSE: A scoping review to describe the use of enzyme replacement therapy (ERT) in the form of asfotase alfa to decrease the severity of o …
Intraindividual Comparisons to Determine Comparative Effectiveness: Their Relevance for G-BA's Health Technology Assessments.
Wagle JA, Flacke JP, Knoerzer D, Ruof J, Merkesdal S. Wagle JA, et al. Value Health. 2021 May;24(5):744-752. doi: 10.1016/j.jval.2020.11.016. Epub 2021 Feb 18. Value Health. 2021. PMID: 33933244 Free article.
Eleven appraisals included IIC: nonacog beta (hemophilia B), turoctocog alpha (hemophilia A), emicizumab (2 appraisals: hemophilia A), pasireotide (unresectable pituitary tumor), lomitapid (homozygous familial hypercholesterolemia), glycerol phenylbutyrate (2 appraisals: urea cyc …
Eleven appraisals included IIC: nonacog beta (hemophilia B), turoctocog alpha (hemophilia A), emicizumab (2 appraisals: hemophilia A), pasir …
Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Malinowski J, Miller DT, Demmer L, Gannon J, Pereira EM, Schroeder MC, Scheuner MT, Tsai AC, Hickey SE, Shen J; ACMG Professional Practice and Guidelines Committee. Malinowski J, et al. Genet Med. 2020 Jun;22(6):986-1004. doi: 10.1038/s41436-020-0771-z. Epub 2020 Mar 23. Genet Med. 2020. PMID: 32203227 Free PMC article.