Pediatric hypophosphatasia: avoid diagnosis missteps!
MP Whyte, WH McAlister, KE Mack… - Journal of Bone and …, 2024 - academic.oup.com
Vignette Hypophosphatasia (HPP) is the dento-osseous disorder caused by deactivating
mutation (s) of ALPL, the gene that encodes the “tissue-nonspecific” isoenzyme of alkaline …
mutation (s) of ALPL, the gene that encodes the “tissue-nonspecific” isoenzyme of alkaline …
Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up
R Montero-Lopez, MR Farman, F Högler, V Saraff… - Horm Res …, 2024 - karger.com
BACKGROUND: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-
function variants in the ALPL gene, leading to deficient tissue-nonspecific alkaline …
function variants in the ALPL gene, leading to deficient tissue-nonspecific alkaline …
[HTML][HTML] The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia
OS Glotov, NA Zhuchenko, MS Balashova… - International Journal of …, 2024 - mdpi.com
Hypophosphatasia (HPP) is a rare inherited disorder characterized by the decreased activity
of tissue-nonspecific alkaline phosphatase (TNSALP), caused by mutations in the ALPL …
of tissue-nonspecific alkaline phosphatase (TNSALP), caused by mutations in the ALPL …
[HTML][HTML] Diagnosis and treatment of adult hypophosphatasia: Still a big challenge?
D Inoue - Osteoporosis and Sarcopenia, 2024 - ncbi.nlm.nih.gov
Asfotase alfa. Although limited, accumulating evidence suggests clinical and radiographical
improvements of musculoskeletal signs and symptoms of adult HPP patients [7]. Case 1 in …
improvements of musculoskeletal signs and symptoms of adult HPP patients [7]. Case 1 in …
[HTML][HTML] Severe hypoplastic enamel as a primary manifestation of hypophosphatasia: A case report
YJ Kim, SH Kim, JW Kim - Journal of Dental Sciences, 2024 - pmc.ncbi.nlm.nih.gov
Severe hypoplastic enamel as a primary manifestation of hypophosphatasia: A case report -
PMC Skip to main content Here's how you know Official websites use .gov A .gov website …
PMC Skip to main content Here's how you know Official websites use .gov A .gov website …
Клинические фенотипы гипофосфатазии вследствие мутаций гена ALPL, эффективность заместительной ферментной терапии препаратом Асфотаза …
НД Савенкова, ЖГ Левиашвили - … вестник перинатологии и …, 2025 - ped-perinatology.ru
Аннотация Представлены современные сведения о клинических формах
гипофосфатазии. В каталоге OMIM приведено 5 форм гипофосфатазии …
гипофосфатазии. В каталоге OMIM приведено 5 форм гипофосфатазии …
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
ET Rush, G del Angel, J Dong, T Bates… - Molecular Genetics and …, 2025 - Elsevier
Hypophosphatasia (HPP) is a rare metabolic disease resulting from variants in ALPL,
inherited in an either autosomal recessive or autosomal dominant manner. Sponsored …
inherited in an either autosomal recessive or autosomal dominant manner. Sponsored …