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72 results

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Page 1
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.
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 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 f …
BACKGROUND: This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with …
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: from birth to adulthood.
Reis FS, Lazaretti-Castro M. Reis FS, et al. Arch Endocrinol Metab. 2023 May 25;67(5):e000626. doi: 10.20945/2359-3997000000626. Arch Endocrinol Metab. 2023. PMID: 37249457 Free PMC article. Review.
Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that removes phosphate groups from many molecules. ...This review summarizes the main aspects of HPP and identifies the particularities of the di …
Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that …
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 …
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 heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone mineralization, seizures, and hypercalcemia, to young adults with premature exfoliation of their teeth …
Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presentin …
The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance.
Brandi ML, Khan AA, 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, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Roux C. Brandi ML, et al. Osteoporos Int. 2024 Mar;35(3):439-449. doi: 10.1007/s00198-023-06859-8. Epub 2023 Nov 20. Osteoporos Int. 2024. PMID: 37982856 Review.
Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, resulting from pathogenic variants in the ALPL gene. ...Formal guidelines for the diagnosis of adults with H …
Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent activity of the tissue non-specific alkaline phos …
Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group.
Rush E, Brandi ML, Khan A, 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, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Starling SR, Ward L, Yao L, Brignardello-Petersen R, Simmons JH. Rush E, et al. Osteoporos Int. 2024 Jan;35(1):1-10. doi: 10.1007/s00198-023-06843-2. Epub 2023 Nov 20. Osteoporos Int. 2024. PMID: 37982855 Free PMC article. Review.
Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. ...This group reviewed 93 papers through a Medline, Medline In-Process, and Embase search for the terms "HPP" and "hypophosphatasia" between 2005 an …
Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both age of onset and severity. ...This group r …
72 results