Results 51 to 60 of about 7,235,288 (192)
Journal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk +39 more
wiley +1 more source
Cortical and Trabecular Bone Density in X-Linked Hypophosphatemic Rickets [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2013 X-linked hypophosphatemic rickets is caused by mutations in PHEX. Even though the disease is characterized by disordered skeletal mineralization, detailed bone densitometric studies are lacking.The aim of the study was to assess volumetric bone mineral density (vBMD) in X-linked hypophosphatemic rickets using forearm peripheral quantitative computed ...
Cheung, Moira +6 more
openaire +2 more sources
Advances in FGF/FGFR Signaling: Implications for Disease and Therapy
MedComm, Volume 7, Issue 9, September 2026.The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song +4 more
wiley +1 more source
A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report
Clinical Case Reports, Volume 14, Issue 8, August 2026.ABSTRACT A 7.5‐year‐old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1.
Muhammad Wajid Siddique +5 more
wiley +1 more source
Periodontitis and Periodontal Conditions in Systemically Healthy Children and Adolescents
Journal of Clinical Periodontology, Volume 53, Issue 7, Page 1100-1198, July 2026.ABSTRACT Objective To answer the PICoS question ‘in systemically healthy children and adolescents (Population), what are the main features of periodontitis, necrotising periodontal diseases (NPD) and other periodontal conditions (periodontal abscesses, endo‐periodontal lesions, traumatic occlusal forces, prosthesis‐ and tooth‐related factors ...
Inbar Eshkol‐Yogev +5 more
wiley +1 more source
Microstructural Evidence for Early Childhood Stress in a Community in Transition at Hisban, Jordan
American Journal of Biological Anthropology, Volume 190, Issue 2, June 2026.ABSTRACT Objectives Identification of stress across infancy and childhood can reflect maternal and environmental influences on early life health. In the 19th century community of Hisban, many infants died before 2 years of age with evidence of metabolic disease, including rickets, that likely ties with maternal health.
Kristina Cockerille +4 more
wiley +1 more source
X-linked hypophosphatemic rickets--a report of 2 cases and review of literature
, 2000 We report two cases of x-linked dominant hypophosphatemic rickets involving a man and his daughter. The family tree consists of 44 members with 13 of them having short stature and bowing of the lower limbs. The study of this family tree strongly suggests
Yong, S.M., Saw, Aik
core +2 more sources
LOCALISATION OF THE X-LINKED HYPOPHOSPHATAEMIC RICKETS GENE [PDF]
Pediatric Research, 1986 Cloned human X chromosome fragments identifying DNA sequence polymorphisms have been used as genetic markers in linkage studfes to localise the abnormal gene that causes X-linked hypophospbataemic rickets. These linkage studies were performed in 11 families in which the disease had occured in 3 or more generations.
Thakker, R +4 more
openaire +2 more sources
An Overview of Rickets in Children
Kidney International Reports, 2020 Rickets is a common bone disease worldwide that is associated with disturbances in calcium and phosphate homeostasis and can lead to short stature and joint deformities.
Rahul Chanchlani +7 more
doaj +1 more source
Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia. [PDF]
PLoS ONE, 2014 OBJECTIVE: X-linked dominant hypophosphatemia (XLH) is the most prevalent form of inherited rickets/osteomalacia in humans. The aim of this study was to identify PHEX gene mutations and describe the clinical features observed in 6 unrelated Chinese ...
Hua Yue +12 more
doaj +1 more source