Results 31 to 40 of about 1,523 (155)
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia [PDF]
, 2017 Hypophosphatasia is an inherited disease characterized by reduced alkaline phosphatase activity, extracellular accumulation of inorganic pyrophosphate, and impaired bone mineralization.
Quinkler, Marcus +5 more
core +1 more source
, 2014 Hypophosphatasia is a rare inherited disorder characterized by poor bone mineralization and deficiency of alkaline phosphatase activity. It is caused by mutations in the liver/bone/kidney alkaline phosphatase gene encoding the tissue-nonspecific ...
Chang, Kai-Chi;Lin, Po-Han;Su, Yi-Ning;Peng, Steven Shinn-Forng;Lee, Ni-Chung;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien +1 more
core +1 more source
Prosthetic Rehabilitation of Hypophosphatasia with Precision Attachment Retained Unconventional Partial Denture: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Deficiency of the alkaline phosphatase isoenzyme can lead to a rare hereditary disorder called Hypophosphatasia. It is characterized by defective mineralization of the skeletal and dental structures of the body.
GAYATRI SHEENA SUVARNA +3 more
doaj +1 more source
Journal of Clinical Pathology, 1996 Hypophosphatasia is a rare inherited metabolic disease characterised by reduced plasma and tissue alkaline phosphatase activity, and may present in infancy, childhood or adulthood. The differing modes of inheritance, presentation and natural history are likely to reflect variable expression of the alkaline phosphatase gene defect.
I J, Ramage, A J, Howatson, T J, Beattie
openaire +2 more sources
Hypophosphatasia: Diagnostic Clues for the Dental Practitioner
, 2018 Hypophosphatasia has a wide clinical spectrum ranging from premature loss of primary teeth to neonatal death. The premature loss of primary teeth in a child with an otherwise unremarkable history may be the first sign of a more significant underlying ...
Robert P Anthonappa +2 more
core +1 more source
Лечащий Врач, 2023 Hypophosphatasia is a rare hereditary disease characterized by a very diverse clinical manifestations that can make it difficult to make a timely diagnosis.
E. Yu. Belyashova +3 more
doaj +1 more source
Neonatal form of hypophosphatasia
, 1995 Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities.
Hacer Ergin +4 more
core +1 more source
Transition of young adults with metabolic bone diseases to adult care
Frontiers in Endocrinology, 2023 As more accurate diagnostic tools and targeted therapies become increasingly available for pediatric metabolic bone diseases, affected children have a better prognosis and significantly longer lifespan.
Jordan Ross +5 more
doaj +1 more source
Case Report of Lethal Perinatal Hypophosphatasia with Seizure and Respiratory Failure Diagnosed by ALPL Gene Mutation [PDF]
Neonatal Medicine, 2020 Hypophosphatasia is a rare disease characterized by defective bone mineralization due to deficiency of tissue-nonspecific alkaline phosphatase. The patient was an 8-day-old male infant who presented with seizure since that day.
Seung Jae Lee +2 more
doaj +1 more source
Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy +21 more
wiley +1 more source