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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1970 3
1971 4
1972 5
1973 3
1974 2
1975 1
1976 3
1977 3
1979 5
1981 2
1982 1
1983 2
1986 2
1987 1
1989 3
1990 5
1991 3
1992 5
1993 3
1994 4
1996 2
1997 5
1998 2
2000 1
2001 3
2002 1
2004 4
2005 2
2006 4
2007 6
2008 5
2009 8
2010 9
2011 4
2012 4
2013 10
2014 8
2015 13
2016 14
2017 14
2018 15
2019 14
2020 10
2021 15
2022 14
2023 15
2024 3

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242 results

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Page 1
Disorders affecting vitamin B6 metabolism.
Wilson MP, Plecko B, Mills PB, Clayton PT. Wilson MP, et al. J Inherit Metab Dis. 2019 Jul;42(4):629-646. doi: 10.1002/jimd.12060. Epub 2019 Mar 20. J Inherit Metab Dis. 2019. PMID: 30671974 Review.
This includes pyridox(am)ine phosphate oxidase deficiency (a disorder affecting PLP synthesis and recycling), disorders affecting PLP import into the brain (hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects), a disorder of an intracellular PLP-bind …
This includes pyridox(am)ine phosphate oxidase deficiency (a disorder affecting PLP synthesis and recycling), disorders affecting PLP import …
Hypophosphatasia.
Fenn JS, Lorde N, Ward JM, Borovickova I. Fenn JS, et al. J Clin Pathol. 2021 Oct;74(10):635-640. doi: 10.1136/jclinpath-2021-207426. Epub 2021 Apr 30. J Clin Pathol. 2021. PMID: 33931563 Review.
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisation of bones and/or teeth and low serum alkaline phosphatase (ALP) activity. ...
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisation of bones and/or teeth and low s …
Alkaline phosphatase: Structure, expression and its function in bone mineralization.
Vimalraj S. Vimalraj S. Gene. 2020 Sep 5;754:144855. doi: 10.1016/j.gene.2020.144855. Epub 2020 Jun 6. Gene. 2020. PMID: 32522695 Review.
These substrates concentrate in TNAP deficient condition which results in hypophosphatasia. The increased level of ALP expression and development in this environment would undoubtedly provide new and essential information about the fundamental molecular mechanisms of bone …
These substrates concentrate in TNAP deficient condition which results in hypophosphatasia. The increased level of ALP expression and …
Osteomalacia Is Not a Single Disease.
Cianferotti L. Cianferotti L. Int J Mol Sci. 2022 Nov 28;23(23):14896. doi: 10.3390/ijms232314896. Int J Mol Sci. 2022. PMID: 36499221 Free PMC article. Review.
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP. Whyte MP. Nat Rev Endocrinol. 2016 Apr;12(4):233-46. doi: 10.1038/nrendo.2016.14. Epub 2016 Feb 19. Nat Rev Endocrinol. 2016. PMID: 26893260 Review.
Hypophosphatasia is the inborn error of metabolism characterized by low serum alkaline phosphatase activity (hypophosphatasaemia). ...Hypophosphatasia was the last type of rickets or osteomalacia to await a medical treatment. ...
Hypophosphatasia is the inborn error of metabolism characterized by low serum alkaline phosphatase activity (hypophosphatasaemia). .. …
Periodontal diseases in the child and adolescent.
Oh TJ, Eber R, Wang HL. Oh TJ, et al. J Clin Periodontol. 2002 May;29(5):400-10. doi: 10.1034/j.1600-051x.2002.290504.x. J Clin Periodontol. 2002. PMID: 12060422 Free article. Review.
Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults.
Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM. Khan AA, et al. Osteoporos Int. 2024 Mar;35(3):431-438. doi: 10.1007/s00198-023-06844-1. Epub 2023 Nov 20. Osteoporos Int. 2024. PMID: 37982857 Free PMC article. Review.
BACKGROUND: This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of integrating clinical features, laboratory profile, radiographic features …
BACKGROUND: This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypop …
Diagnostic Approach to Patients with Low Serum Alkaline Phosphatase.
Riancho JA. Riancho JA. Calcif Tissue Int. 2023 Mar;112(3):289-296. doi: 10.1007/s00223-022-01039-y. Epub 2022 Nov 8. Calcif Tissue Int. 2023. PMID: 36348061 Review.
Persistently low serum ALP may be secondary to drug therapy (including antiresorptives) or a variety of acquired disorders, such as malnutrition, vitamin and mineral deficiencies, endocrine disorders, etc. Hypophosphatasia, due to pathogenic variants of the ALPL gene, whic …
Persistently low serum ALP may be secondary to drug therapy (including antiresorptives) or a variety of acquired disorders, such as malnutri …
Hypophosphatasia.
Linglart A, Biosse-Duplan M. Linglart A, et al. Curr Osteoporos Rep. 2016 Jun;14(3):95-105. doi: 10.1007/s11914-016-0309-0. Curr Osteoporos Rep. 2016. PMID: 27084188 Review.
Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. ...Schematically, the diagnosis relies on low ALP levels and, in most cases, on the gen …
Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminishe …
242 results