Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1970 1
1971 1
1974 1
1976 2
1977 1
1979 1
1983 2
1986 1
1989 1
1990 1
1991 2
1992 1
1993 1
1997 3
1998 1
2006 1
2007 2
2009 3
2010 2
2011 2
2012 1
2013 2
2015 5
2016 4
2017 6
2018 6
2019 6
2020 1
2021 3
2022 4
2023 8
2024 3

Text availability

Article attribute

Article type

Publication date

Search Results

70 results

Results by year

Filters applied: . Clear all
Page 1
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. ...A classification based on the age at diagnosis and the presence or absence of bone symptoms was
Hypophosphatasia (HPP) is a group of inherited disorders characterised by the impaired mineralisation of bones and/or teeth and low s
HYPOPHOSPHATASIA: CLINICAL ASSESSMENT AND MANAGEMENT IN THE ADULT PATIENT-A NARRATIVE REVIEW.
Vinan-Vega MN, Abate EG. Vinan-Vega MN, et al. Endocr Pract. 2018 Dec;24(12):1086-1092. doi: 10.4158/EP-2018-0194. Epub 2018 Oct 5. Endocr Pract. 2018. PMID: 30289311 Review.
OBJECTIVE: To review literature and present a schematic approach to hypophosphatasia (HPP) evaluation and management applicable to practicing physicians to ease its recognition and diagnosis. ...To date, the prevalence of HPP and its impact on adults has been unreco …
OBJECTIVE: To review literature and present a schematic approach to hypophosphatasia (HPP) evaluation and management applicable to pr …
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 …
Adult hypophosphatasia.
Briot K, Roux C. Briot K, et al. Arch Pediatr. 2017 May;24(5S2):5S71-5S73. doi: 10.1016/S0929-693X(18)30018-6. Arch Pediatr. 2017. PMID: 29405936 Review.
In adults, hypophosphatasia (HPP) may be revealed by fractures, mainly metatarsal and femoral, and by crystal-related joint diseases. Low alkaline phosphatase levels are often overlooked. There is no established treatment for adults but the diagnosis is impor …
In adults, hypophosphatasia (HPP) may be revealed by fractures, mainly metatarsal and femoral, and by crystal-related joint di …
Hypophosphatasia.
Mornet E. Mornet E. Metabolism. 2018 May;82:142-155. doi: 10.1016/j.metabol.2017.08.013. Epub 2017 Sep 20. Metabolism. 2018. PMID: 28939177 Review.
We review here clinical, pathophysiological, diagnostic, genetic and molecular aspects of Hypophosphatasia (HPP), a rare inherited metabolic disorder. The clinical presentation is a continuum ranging from a prenatal lethal form with no skeletal mineralization to a mild for …
We review here clinical, pathophysiological, diagnostic, genetic and molecular aspects of Hypophosphatasia (HPP), a rare inherited me …
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. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threateni
Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminishe
Alkaline Phosphatase Replacement Therapy.
Bianchi ML, Vai S. Bianchi ML, et al. Adv Exp Med Biol. 2019;1148:201-232. doi: 10.1007/978-981-13-7709-9_10. Adv Exp Med Biol. 2019. PMID: 31482501 Review.
Hypophosphatasia (HPP) is a rare genetic disease, characterized by the defective production of tissue-non-specific alkaline phosphatase (TNSALP). Six subtypes of the disease - affecting neonates (beginning in utero), infants, children, or adults - are recognized: pe
Hypophosphatasia (HPP) is a rare genetic disease, characterized by the defective production of tissue-non-specific alkaline phosphata
Hypophosphatasia.
Mornet E. Mornet E. Orphanet J Rare Dis. 2007 Oct 4;2:40. doi: 10.1186/1750-1172-2-40. Orphanet J Rare Dis. 2007. PMID: 17916236 Free PMC article. Review.
Serum alkaline phosphatase (AP) activity is markedly reduced in hypophosphatasia, while urinary phosphoethanolamine (PEA) is increased. ...Prenatal assessment of severe hypophosphatasia by mutation analysis of chorionic villus DNA is possible. ...
Serum alkaline phosphatase (AP) activity is markedly reduced in hypophosphatasia, while urinary phosphoethanolamine (PEA) is increase …
Hypophosphatasia.
Rockman-Greenberg C. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013 Jun;10 Suppl 2:380-8. Pediatr Endocrinol Rev. 2013. PMID: 23858621 Review.
Hypophosphatasia (HPP) is a rare, inherited, potentially life-threatening metabolic disorder that arises from loss-of-function mutations in the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). ...
Hypophosphatasia (HPP) is a rare, inherited, potentially life-threatening metabolic disorder that arises from loss-of-function mutati
Genetic causes of neonatal and infantile hypercalcaemia.
Gorvin CM. Gorvin CM. Pediatr Nephrol. 2022 Feb;37(2):289-301. doi: 10.1007/s00467-021-05082-z. Epub 2021 May 14. Pediatr Nephrol. 2022. PMID: 33990852 Free PMC article. Review.
The causes of hypercalcaemia in the neonate and infant are varied, and often distinct from those in older children and adults. Hypercalcaemia presents clinically with a range of symptoms including failure to thrive, poor feeding, constipation, polyuria, irritability, letha …
The causes of hypercalcaemia in the neonate and infant are varied, and often distinct from those in older children and adults. Hyperc …
70 results