Clinical and genetic aspects of mild hypophosphatasia in Japanese patients [PDF]
, 2019 Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP).
Akiyama, Tomoyuki +8 more
core +1 more source
Hypophosphatasia : diagnosis and clinical signs - a dental surgeon perspective [PDF]
, 2016 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.
Bloch-Zupan, A. (Agnès)
core +2 more sources
The biochemistry of mineralizing extracellular vesicles. Part I: The role of phosphatases [PDF]
In this chapter, we will review some of the information regarding the functional significance of the inorganic phosphate (Pi)/pyrophosphate (PPi) ratio for physiological mineralization of hard tissues.
Amadeu De Oliveira, Flavia +10 more
core +2 more sources
Relação da hipofosfatasia com alterações na cavidade oral: revisão narrativa [PDF]
, 2022 A hipofosfatasia (HPP) é uma doença genética rara descoberta em 1948, causada por mutações no gene ALPL. Este gene codifica a enzima fosfatase alcalina não específica de tecido (TNSALP).
Bouafia, Firdaws El Ataoui
core
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia [PDF]
, 2019 Inherited skeletal disorders affect both humans and animals. In the current study, we have performed series of clinical, pathological and genetic examinations to characterize a previously unreported skeletal disease in the Karelian Bear Dog (KBD) breed ...
Arumilli, Meharji +8 more
core +2 more sources
Hypophosphatasia in childhood: Diagnosis to management
Osteoporosis and SarcopeniaHypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj +1 more source
A Hidden Cause of Bone Fragility: Late Diagnosis of Hypophosphatasia in a 40-Year-Old Female [PDF]
Hypophosphatasia (HPP) is a rare inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Hassan, Ahmed +4 more
core +2 more sources
Childhood hypophosphatasia: to treat or not to treat
Orphanet Journal of Rare Diseases, 2018 Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the
Eric T. Rush
doaj +1 more source
Tratamento de hipofosfatasia com a enzima asfotase alfa, uma revisão da literatura [PDF]
, 2019 Trabalho de Conclusão de Curso (graduação)—Universidade de Brasília, Faculdade de Ciências da Saúde, Departamento de Farmácia, 2019.A hipofosfatasia, também conhecida como doença de Rathbun, é uma doença genética rara, sem cura, que acomete ...
Shiratori, Vitor Akira Arake
core
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data [PDF]
Introduction: Hypophosphatasia (HPP) is an inherited, metabolic, rare disease characterized by a high level of clinical heterogeneity. In response to this robust heterogeneity, the Global HPP Registry was formed to characterize the types of ...
Burke, Luke K. +14 more
core +2 more sources