Results 71 to 80 of about 4,812 (192)

X-linked vitamin D-resistant rickets: 12 years of follow-up

The Pan African Medical Journal, 2018
Rickets are abnormalities of mineralization that can lead to bone fractures and deformities. Vitamin-resistant rickets is defined as any rickets not prevented by regular, early and prolonged administration of vitamin D and not cured by a sufficient total
Ahmed Anas Guerboub, Souad Moussaoui, Jad Issouani, Yassine Errahali, Ghizlaine Belmejdoub   +4 more
doaj   +1 more source

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Orphanet Journal of Rare Diseases, 2010
Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to
Pérez-Menéndez Teresa M, Coto Eliecer, Gil-Peña Helena, Mejia-Gaviria Natalia, Santos Fernando   +4 more
doaj   +1 more source

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

Hypophosphatemic rickets in children

, 2022
Hipofosfatemični rahitis je metabolička bolest kostiju koja najčešće nastaje zbog povećanog gubitka fosfata bubrezima. X-vezani dominantni hipofosfatemični rahitis je najzastupljeniji nasljedni oblik hipofosfatemičnog rahitisa, a uzrokovan je mutacijama ...
Ivanković, Katarina
core  

Head Posture and Upper Spine Morphological Deviations in Patients With Hypermobile Ehlers–Danlos Syndrome

Orthodontics &Craniofacial Research, Volume 28, Issue 3, Page 555-563, June 2025.
ABSTRACT Objective To compare head posture and upper spine morphology in hypermobile Ehlers‐Danlos syndrome (hEDS) patients with healthy controls with neutral occlusion. Materials and Methods The study consisted of 27 hEDS patients (23 females, 4 males, mean age 36.41 ± 11.35) and 39 healthy controls (28 females, 11 males, mean age 31.85 ± 11.35) with ...
Ashkan Jasemi, Eva Fejerskov Lauridsen, Liselotte Sonnesen   +2 more
wiley   +1 more source

Ferric Carboxymaltose (FCM)–Associated Hypophosphatemia (HPP): A Systematic Review

American Journal of Hematology, Volume 100, Issue 5, Page 840-846, May 2025.
ABSTRACT Background Since 2015, ferric carboxymaltose (FCM), an intravenous (IV) iron formulation used for treating iron deficiency anemia (IDA), has been associated with an increasing number of reported hypophosphatemia (HPP) cases. Information on HPP clinical manifestations and incidence has not been reviewed.
Joseph Magagnoli, Kevin Knopf, William J. Hrushesky, Kenneth R. Carson, Charles L. Bennett   +4 more
wiley   +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 Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Mosaic KRAS Mutation in Schimmelpenning–Feuerstein–Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features

Pediatric Dermatology, Volume 42, Issue 3, Page 591-595, May/June 2025.
ABSTRACT We report a patient with clinically confirmed Schimmelpenning–Feuerstein–Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.(Ala146Thr) mutation, previously identified in three OES and ECCL patients ...
Hyvönen Hanna, Kettunen Kaisa, Avela Kristiina, Kivirikko Sirpa, Jeskanen Leila, Suominen Sinikka, Salminen Päivi, Hannula‐Jouppi Katariina   +7 more
wiley   +1 more source

Hypophosphatemic Rickets/ Osteomalacia: A Case Report and Review of Literature

, 2014
Hypophosphatemic rickets/ osteomalacia comprises of a group of disorders of bone mineralization caused due to defect in renal handling of phosphorus. The group includes X linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets and ...
Kotwal, Col. Narendra, Pandit, Aditi, Kumar, Yogesh, Upreti, Vimal   +3 more
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CONTENTS OF SOME OSTEOTROPIC GROWTH FACTORS AND OSTEOGENESIS MARKERS IN BLOOD OF PATIENTS WITH OSTEOGENESIS IMPERFECTa AND HYPOPHOSPHATEMIC RICKETS

Сибирский научный медицинский журнал, 2019
In recent years there is intensive growth of the number of genetic diseases such as imperfect osteogenesis and hypophosphatemic rickets. Treatment of this category of patients includes surgical intervention, however in many cases there are recurrences of
E. P. Vykhovanets, S. N. Luneva, N. V. Nakoskina, E. R. Mingazov, A. V. Popkov   +4 more
doaj   +1 more source