Results 21 to 30 of about 3,700 (196)
Journal of Medical Case ReportsBackground Adult hypophosphatasia is an uncommon inherited disorder of mineral homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase, Biomineralization Associated (ALPL) gene, which encodes tissue-nonspecific alkaline ...
Shusuke Tokuchi +11 more
doaj +2 more sources
First Reported Case of a Pyrophosphate Kidney Stone in a Human
Case Reports in Nephrology and Dialysis, 2023 Urolithiasis composed of pyrophosphate salts has only been reported in animals, in the form of potassium magnesium pyrophosphate. However, there have been no reports of pyrophosphate stones in humans.
Michael R. Gigax +5 more
doaj +1 more source
Clinical periodontal diagnosis
Periodontology 2000, EarlyView., 2023 Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi +5 more
wiley +1 more source
Correction to "Revisiting the Genetics of Hypophosphatasia". [PDF]
J Inherit Metab DisP. S. Kishnani, C. Rehder, K. Ozono, et al., “Revisiting the Genetics of Hypophosphatasia,” Journal of Inherited Metabolic Disease 48, no. 6 (2025): e70083, https://doi.org/10.1002/jimd.70083.There were errors in the reference numbering in the published ...
Rehder, Catherine +8 more
europepmc +2 more sources
Bone Reports, 2022 Asfotase alfa is a human recombinant enzyme replacement therapy for hypophosphatasia. We describe 6 adults who were treated with asfotase alfa for 61–68 months in a clinical trial (NCT01163149), after which asfotase alfa was discontinued for 15–48 months.
Cheryl Rockman-Greenberg +3 more
doaj +1 more source
Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPP. [PDF]
JIMD RepABSTRACT Hypophosphatasia (HPP) is an inherited metabolic disease caused by deficient tissue‐nonspecific alkaline phosphatase (ALP) activity and characterized by skeletal and nonskeletal symptoms, including muscle weakness and fatigue. We hypothesized that mitochondrial respiration is impaired in muscle in HPP, independent of skeletal manifestations ...
Devore D +10 more
europepmc +2 more sources
Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2023 Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manifestations of HPP vary from no symptoms to intrauterine fetal death; short stature is another indication of HPP.
Donghyun Lee +3 more
doaj +1 more source
Hypophosphatasia as a plausible cause of vitamin B6 associated mouth pain:A case-report [PDF]
, 2023 Background: Mouth pain has been associated with abnormal vitamin B6 levels. Hypophosphatasia is a rare genetic disease, which causes imbalances between B6 vitamers. We report the case of a patient with hypophosphatasia and burning mouth pain.
Andersen, Eline Sandvig +2 more
core +1 more source
A Case of Infantile Hypophosphatasia with Poor Body Weight Gain at One Month Old [PDF]
, 2007 Hypophosphatasia is a hereditary autosomal recessive disease characterized by a defect in tissuenonspecific alkaline phosphatase (TNSALP) activities. A one-month-old boy showed poor weight gain. His body weight and height were 3,202 g (-2.7SD) and 53 cm (
塩原, 正明 +3 more
core +1 more source
Dental loss, stress fractures, and musculoskeletal pain in a 48‐year‐old woman
Clinical Case Reports, 2023 We report a 48‐year‐old female patient with various stress fractures of extremities, musculoskeletal pain, and tooth loss. Hypophosphatasia was diagnosed based on clinical and laboratory findings and ALPL genetic results.
Lindsay T. Hoang +4 more
doaj +1 more source