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 …
Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications
F Lehane, O Malaise, C Von Frenckell, B Otto… - Journal of Clinical …, 2024 - mdpi.com
Hypophosphatasia is a rare genetic disease characterized by abnormal alkaline
phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is …
phosphatase activity and deficiency of bone and teeth mineralization. Hypophosphatasia is …
Safety, pharmacokinetics, and pharmacodynamics of efzimfotase alfa, a second-generation enzyme replacement therapy: phase 1, dose-escalation study in adults …
KM Dahir, A Shannon, D Dunn, W Voegtli… - Journal of Bone and …, 2024 - academic.oup.com
Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity
of tissue-nonspecific alkaline phosphatase (TNSALP). Efzimfotase alfa (ALXN1850) is a …
of tissue-nonspecific alkaline phosphatase (TNSALP). Efzimfotase alfa (ALXN1850) is a …
Circulating Micro-RNAs in Patients with Hypophosphatasia Results of the first micro-RNA analysis in HPP
J Haschka, Z Messner, J Feurstein, B Hadzimuratovic… - medRxiv, 2024 - medrxiv.org
Introduction: Adult hypophosphatasia (HPP) patients present with diffuse heterogenous
symptoms often mimicking rheumatological diseases or osteoporosis and therefore …
symptoms often mimicking rheumatological diseases or osteoporosis and therefore …
[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 …
Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report
S Tokuchi, T Kawano, EH Ntege, M Murahashi… - Journal of Medical Case …, 2024 - Springer
Background Adult hypophosphatasia is an uncommon inherited disorder of mineral
homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase …
homeostasis affecting bone. It arises from mutations within the Alkaline Phosphatase …
Rare Causes of Musculoskeletal Pain: Thinking beyond Common Rheumatologic Diseases
JF Charles, AO Malabanan, S Krolczyk… - Case Reports in …, 2024 - Wiley Online Library
Objectives. Rare metabolic bone diseases can present with symptoms mimicking more
common rheumatological conditions including spondyloarthritis, osteoarthritis, and …
common rheumatological conditions including spondyloarthritis, osteoarthritis, and …
[HTML][HTML] Gene Therapy for Hypophosphatasia: Current Management and Future
T Matsumoto, S Narisawa, JL Millán, K Miyake - 2024 - intechopen.com
This review provides a comprehensive overview of hypophosphatasia (HPP), a rare genetic
disorder marked by defective bone and teeth mineralization due to mutations in the ALPL …
disorder marked by defective bone and teeth mineralization due to mutations in the ALPL …
Gene Therapy for Hypophosphatasia: Current
T Matsumoto, S Narisawa, JL Millán… - Genetically Modified …, 2024 - books.google.com
This review provides a comprehensive overview of hypophosphatasia (HPP), a rare genetic
disorder marked by defective bone and teeth mineralization due to mutations in the ALPL …
disorder marked by defective bone and teeth mineralization due to mutations in the ALPL …
Hypophosphatasia
AS AbuMaziad, GC Milillo - Annals of Internal Medicine: Clinical …, 2024 - acpjournals.org
Hypophosphatasia is a significantly heterogeneous disease caused by loss of function
mutations in the alkaline phosphatase gene. Hypophosphatasia can manifest with dental …
mutations in the alkaline phosphatase gene. Hypophosphatasia can manifest with dental …