Results 31 to 40 of about 9,342 (275)

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, So Yun Park, Heung Sik Kim, Seokjin Kang   +3 more
doaj   +1 more source

Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series

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, Robert Josse, Mira Francis, Aziz Mhanni   +3 more
doaj   +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, Jennifer S. Hatfield, Quan Nguyen, Mohamed K. M. Shakir, Thanh D. Hoang   +4 more
doaj   +1 more source

Hypophosphatasia in childhood: Diagnosis to management. [PDF]

Osteoporos Sarcopenia
Im M, Cho SY.
europepmc   +2 more sources

Validation of a novel scoring system for changes in skeletal manifestations of hypophosphatasia in newborns, infants, and children: The Radiographic Global Impression of Change scale [PDF]

, 2018
Hypophosphatasia (HPP) is the heritable metabolic disease characterized by impaired skeletal mineralization due to low activity of the tissue-nonspecific isoenzyme of alkaline phosphatase.
Fujita, Kenji P, McAlister, William H, Moseley, Scott, Thompson, David D, Whyte, Michael P   +4 more
core   +2 more sources

Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report

Journal of Medical Case Reports, 2019
Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto ...
Kazunori Fukushima, Keiko Kawai-Kowase, Yukio Yonemoto, Makoto Fujiwara, Hiroko Sato, Mahito Sato, Takuo Kubota, Keiichi Ozono, Junich Tamura   +8 more
doaj   +1 more source

Hypophosphatasia and Type 1 Diabetes: A Pilot Study and Review of Literature. [PDF]

Curr Osteoporos Rep
Tariq Z, Tinsley JP, Carpenter D, Snell-Bergeon JK, Shah VN.   +4 more
europepmc   +3 more sources

The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase

Nature Communications, 2023
Hypophosphatasia (HPP) is a metabolic bone disease that manifests as developmental abnormalities in bone and dental tissues. HPP patients exhibit hypo-mineralization and osteopenia due to the deficiency or malfunction of tissue non-specific alkaline ...
Yating Yu, KE Rong, D. Yao, Qing Zhang, Xiankun Cao, B. Rao, Ying Xia, Yi Lu, Ya-feng Shen, Ying Yao, Hongtao Xu, Peixiang Ma, Yu Cao, A. Qin   +13 more
semanticscholar   +1 more source

Phospho1 deficiency transiently modifies bone architecture yet produces consistent modification in osteocyte differentiation and vascular porosity with ageing [PDF]

, 2015
PHOSPHO1 is one of principal proteins involved in initiating bone matrix mineralisation. Recent studies have found that Phospho1 KO mice (Phospho1-R74X) display multiple skeletal abnormalities with spontaneous fractures, bowed long bones, osteomalacia ...
Carriero, A, Chang, Y M, Farquharson, C, Houston, D A, Javaheri, B, Kazeruni, B N, Millan, J L, Oldknow, K J, Pitsillides, A A, Salmon, P, Shefelbine, S, Staines, K A   +11 more
core   +4 more sources

Prevention of the disrupted enamel phenotype in Slc4a4-null mice using explant organ culture maintained in a living host kidney capsule. [PDF]

, 2014
Slc4a4-null mice are a model of proximal renal tubular acidosis (pRTA). Slc4a4 encodes the electrogenic sodium base transporter NBCe1 that is involved in transcellular base transport and pH regulation during amelogenesis.
Kurtz, Ira, Paine, Michael L, Wen, Xin
core   +6 more sources