Results 121 to 130 of about 7,235,288 (192)

X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries. [PDF]

J Pediatr Genet, 2022
Deeb A, Juraibah FA, Dubayee MA, Habeb A.   +3 more
europepmc   +1 more source

Case Report: A case of x-linked hypophosphatemic rickets complicated with polyostotic fibrous dysplasia caused by PHEX gene mutation and literature review. [PDF]

Front Endocrinol (Lausanne)
Huang S, Lin A, Zhang N, He W, Huo Y, Wang C.   +5 more
europepmc   +1 more source

A De Novo Mosaic PHEX Variant Causing Sporadic X-Linked Hypophosphatemic Rickets in a 2-Year-Old Girl. [PDF]

J Pediatr Genet, 2023
Poon KS, Tan KM, Zacharin M, Ho CW.
europepmc   +1 more source

Oral Health Status and Parental Awareness in Children with X-Linked Hypophosphatemic Rickets: A Case-Control Study. [PDF]

Reports (MDPI)
Zlateva V, Hristov K, Todorova Z, Bogovska-Gigova R.   +3 more
europepmc   +1 more source

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight. [PDF]

Endocrinol Diabetes Metab Case Rep
Ribeiro S, Moreno T, Varela A, Soares G, Queirós J.   +4 more
europepmc   +1 more source

Unusual PHEX variants implicate uncommon genetic mechanisms for X-linked hypophosphatemic rickets. [PDF]

JBMR Plus
Alzoebie L, Li D, Wang X, Weber DR, Levine MA.   +4 more
europepmc   +1 more source

Fifty Years of Misdiagnosis: Two Sisters with X-Linked Hypophosphatemia Misdiagnosed as Achondroplasia

Endocrinology Research and Practice
X-linked hypophosphatemia (XLH) is the most common inherited form of hypophosphatemic rickets, caused by inactivating mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX) gene.
Esra Eraslan Aydemir, Şerife Özkarakoç Ertürk, Can Berk Leblebici, Halil Gürhan Karabulut, Özgür Demir   +4 more
doaj  

Clinical, Radiographic, and Molecular Analysis of Patients with X-Linked Hypophosphatemic Rickets: Looking for Phenotype-Genotype Correlation. [PDF]

Diagnostics (Basel)
Olivas-Valdez MA, Blanco-López A, Velázquez-Arestegui D, Vera-Zazueta T, Colmenares-Bonilla D, Reyes-Morales L, Blanco-Uriarte MA, Monterde-Cruz L, Hidalgo-Bravo A.   +8 more
europepmc   +1 more source

X-Linked Hypophosphatemic Rickets Manifesting as Sclerotic Bone Disease and Enthesopathy. [PDF]

Cureus, 2020
Boro H, Singh Naik S, Singh C, Khatiwada S, Khadgawat R.   +4 more
europepmc   +1 more source

Prevalence of Comorbid Hyperparathyroidism and Its Association with Renal Dysfunction in Asian Patients with X-Linked Hypophosphatemic Rickets/Osteomalacia. [PDF]

Calcif Tissue Int
Ito N, Kang HG, Michigami T, Namba N, Kubota T, Shintani A, Kawai R, Kabata D, Ishii H, Nishida Y, Fukumoto S, Ozono K.   +11 more
europepmc   +1 more source