Results 71 to 80 of about 6,701 (243)

Bilateral Transverse (Bowdler) Fibular Spurs with Hypophosphatasia in an Adolescent Girl [PDF]

, 2005
Hypophosphatasia is a clinically heterogeneous inheritable disorder characterized by defective bone mineralization and the deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activities.
Ahmet Karadag, Hakan Atalar, Ismail Uras, Kozlowski, Nurdan Uras, Osman Yuksel Yavuz, Pauli, Rathbun, States, Whyte, Whyte   +10 more
core   +2 more sources

Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data [PDF]

, 2020
Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset hypophosphatasia (HPP), a rare, inherited, systemic disease causing impaired skeletal mineralization, short stature, and reduced physical function in ...
Martos-Moreno, Gabriel, Petryk, Anna, Rush, Eric T., Simmons, Jill H., Zhou, Shanggen   +4 more
core   +1 more source

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Schütz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia

JIMD Reports, 2021
Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of alkaline phosphatase, causing defective mineralization of bones and teeth.
Olivia Sarah Strandbech, Allan Lund, Elsebet Ostergaard   +2 more
doaj   +1 more source

Hypophosphatasia: Phenotypic Variability and Possible Croatian Origin of the c.1402G>A Mutation of TNSALP Gene [PDF]

, 2009
Hypophosphatasia is a metabolic bone disease characterized by bone and teeth hypomineralization due to defective function of tissue-nonspecific alkaline phosphatase (TNSALP).
Danijela Petkovi}, Davor Begovi}, Etienne Mornet, Feodora Stipoljev, Ivo Bari}, Kristina Poto~ki, Ksenija Fumi}, Ramad `, Vladimir Sarnavka   +8 more
core   +1 more source

Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 5, Page 860-874, May 2025.
Of the 147 SD fetuses, 58 cases with negative CMA results underwent WES, and 21 genes with pathogenic/likely pathogenic variants were detected in 21 cases, including FGFR3 (n = 11), COL1A1 (n = 2), COL1A2 (n = 1), RUNX2 (n = 1), COL2A1 (n = 1), LMX1B (n = 1), GLI3 (n = 1), DYNC2H1 (n = 1), ALPL (n = 1), and SHOX (n = 1).
Mengting Jiang, Bin Zhang, Jing Wang, Wei Qiao, Xiuzhen Mao, Bin Yu   +5 more
wiley   +1 more source

Hypophosphatasia

Annals of Internal Medicine: Clinical Cases
Hypophosphatasia is a significantly heterogeneous disease caused by loss of function mutations in the alkaline phosphatase gene. Hypophosphatasia can manifest with dental and skeletal issues from birth to adulthood.
Asmaa S. AbuMaziad, Gabrielle C. Milillo
doaj   +1 more source

Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms

Frontiers in Endocrinology, 2020
BackgroundHypophosphatasia is a rare bone disease characterized by impaired bone mineralization and low alkaline phosphatase activity. Here, we describe the course of bone-targeted enzyme replacement therapy with asfotase alpha for a female infant ...
Yasuko Fujisawa, Taichi Kitaoka, Hiroyuki Ono, Shinichi Nakashima, Keiichi Ozono, Tsutomu Ogata   +5 more
doaj   +1 more source

Hypophosphatasia: literature review and description of a clinical case of familial disease with molecular genetic verification of the diagnosis

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, A. L. Frolenko, I. V. Zorin, A. P. Pakhomov   +3 more
doaj   +1 more source

PMDA Perspective on Use of Real‐World Data and Real‐World Evidence as an External Control: Recent Examples and Considerations

Clinical Pharmacology &Therapeutics, Volume 117, Issue 4, Page 910-919, April 2025.
Recent discussions about the utilization of real‐world data (RWD) and real‐world evidence (RWE) have been more focused on drug development for regulatory approval rather than during the post‐marketing stage. In Japan, RWD/RWE have been practically utilized as an external control for drug approval.
Junichi Asano, Hiromi Sugano, Hiroyuki Murakami, Atsushi Noguchi, Yuki Ando, Yoshiaki Uyama   +5 more
wiley   +1 more source