Results 91 to 100 of about 6,701 (243)

Clinical application experience of asfotase alfa for a young patient with childhood hypophosphatasia

Остеопороз и остеопатии, 2019
Hypophosphatasia (HPP) is a rare hereditary metabolic disease characterized by defective bone and dental mineralization, systemic complications that lead to disability of patients.
Nataliya Y. Kalinchenko, Olga O. Golounina, Tatiana A. Grebennikova, Galina A. Melnichenko, Anatoly N. Tiulpakov, Zhanna E. Belaya   +5 more
doaj   +1 more source

Identification of Genetic Variants in Status Epilepticus Associated With Fever

Brain and Behavior, Volume 15, Issue 2, February 2025.
The detection rate of genetic variants was lower in patients with status epilepticus associated with fever (SEF) (4/15; 26.7%) than in those with DEE (17/27 63.0%). DEE revealed a wide variety of causative genes (16 different genes), whereas in SEF cases, only SCN1A variants were detected. SEF and DEE may have different onset mechanisms.
Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Masahiro Nishiyama, Kandai Nozu, Hiroaki Nagase   +8 more
wiley   +1 more source

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? – Call for a long-term follow-up of premature loss of primary teeth

Bone Reports, 2016
Introduction: Hypophosphatasia, a metabolic bone disease caused by a tissue-nonspecific alkaline phosphatase deficiency, leads to undermineralization of bone and/or teeth, impaired vitamin B6 metabolism, and a spectrum of disease presentation.
Mari Mori, Stephanie L. DeArmey, Thomas J. Weber, Priya S. Kishnani   +3 more
doaj  

Serum Alkaline Phosphatase Levels in Pediatric Kikuchi‐Fujimoto Disease: A Retrospective Observational Analysis

Immunity, Inflammation and Disease, Volume 13, Issue 1, January 2025.
The diagnosis of Kikuchi‐Fujimoto disease remains challenging and often requires invasive biopsy. Serum alkaline phosphatase levels were < 50% of the age‐ and sex‐specific median values in patients with Kikuchi‐Fujimoto's disease. Decreased serum alkaline phosphatase levels, mainly when assessed as a percentage of age‐ and sex‐specific reference ...
Shintaro Fujiwara, Yousuke Higuchi, Junya Shimizu   +2 more
wiley   +1 more source

Condiciones sistémicas asociadas con periodontitis en la infancia y la adolescencia: una revisión de las posibilidades diagnósticas [PDF]

, 2005
El término periodontitis se usa para describir un grupo de enfermedades multifactoriales que llevan a la destrucción progresiva de las estructuras que unen los dientes a los maxilares, el llamado aparato de soporte, que incluye el ligamento periodontal ...
Korostoff, Jonathan, Pinto, Andrés, Sollecito, Thomas P., Stewart, Jeffrey, Sullivan, Kathleen E.   +4 more
core   +1 more source

Heterozygous Hereditary Vitamin D‐Dependent Rickets Type 2A (VDDR2A) in a Patient Presenting With Pseudoarthrosis

Case Reports in Endocrinology, Volume 2025, Issue 1, 2025.
This case report is centered on an atypical presentation of Hereditary Vitamin D‐dependent Rickets 2A (VDDR2A), a rare disorder caused by defects in the gene encoding the vitamin D receptor (VDR). While this disorder is primarily autosomal recessive in inheritance, this case demonstrates that a single heterozygous variant in the VDR gene could be ...
Risa Goldberg, Gunjan Umarji, Serge Jabbour, Hyunsik Kang   +3 more
wiley   +1 more source

Outlook Magazine, Fall 2002 [PDF]

, 2002
https://digitalcommons.wustl.edu/outlook/1147/thumbnail ...

core   +1 more source

Focal Spot, Spring/Summer 2010 [PDF]

, 2010
https://digitalcommons.wustl.edu/focal_spot_archives/1114/thumbnail ...

core   +1 more source

Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa [PDF]

Hypophosphatasia (HPP) is a rare disorder, resulting from loss-of-function variants of the ALPL gene encoding non-tissue specific alkaline phosphatase (TNSALP).
Demirdas, Serwet, Plooij, Roel, Timmermans, Remco G.M., van Velsen, Evert F.S., Zervou, Zografia, Zillikens, M. Carola   +5 more
core   +1 more source

Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy [PDF]

, 2007
BACKGROUND: Hypophosphatasia (HP) is characterized by a genetic defect in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and predominantly an autosomal recessive trait. HP patients suffer from reduced bone mineralization.
AG Jurik, AM Friedmann, AM Huber, B Bjorksten, C Job-Deslandre, CC Hu, CR Greenberg, Etienne Mornet, F Schilling, H Orimo, Hermann J Girschick, HJ Girschick, HJ Girschick, HJ Girschick, HJ Girschick, HJ Girschick, HJ Girschick, L Zurutuza, Meinrad Beer, MJ Weiss, Monika Warmuth-Metz, MP Whyte, MP Whyte, O Vittecoq, Peter Schneider, PS Henthorn, PS Henthorn   +26 more
core   +3 more sources