Results 81 to 90 of about 2,043 (190)

CLINICAL CASE OF FAMILIAL HYPOPHOSPHATEMIC RICKETS IN A CHILD

Neonatology, Surgery and Perinatal Medicine
Х-зчеплений гіпофосфатемічний рахіт– спадковий розлад, спричинений мутаціями в гені PHEX. Гіпофосфатемія викликає порушення мінералізації кісток та в подальшому призводить до затримки зросту, рахітоподібних порушень та ураження інших органів та систем.
M. Aryayev, N. Lotysh, L. Kaplina, V. Pavlova, V. Koropets, I. Golovenko   +5 more
openaire   +3 more sources

Genetic diseases resulting from disordered FGF23/klotho biology [PDF]

, 2017
Econs, Michael J.
core   +1 more source

LABRAD : Vol 42, Issue 1 - March 2016 [PDF]

, 2016
Biochemical Bone Profiles Available at Clinical Laboratoryof Aga Khan University Hospital Ionized Calcium Determination in Clinical Labortory Parathyroid Hormone Disorders and Issues of Testing Tubular Maximum Reabsorption Rate of Phosphate to Glomerular
Aga Khan University Hospital, Karachi,
core   +1 more source

The changing face of hypophosphatemic disorders in the FGF-23 era. [PDF]

, 2013
In the past decade, research in genetic disorders of hypophosphatemia has significantly expanded our understanding of phosphate metabolism. X-linked hypophosphatemia (XLH) is the most common inherited form of rickets due to renal phosphate wasting ...
Imel, Erik, Lee, Janet
core  

X-linked hypophosphatemia and growth [PDF]

, 2017
PDF formato impresiónX-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene.
Alonso Durán, Laura, Claramunt Taberner, Débora, Fernández Iglesias, Ángela, Fuente, Rocío, Gil Peña, Helena, Hernádez, Olaya, Rodríguez Rubio, Enrique, Santos, Fernando   +7 more
core  

LABRAD : Vol 41, Issue 3 - December 2015 [PDF]

, 2015
Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core   +1 more source

Six cases of <i>ENPP1</i> pathogenic variants causing autosomal recessive hypophosphatemic rickets type 2 and generalized arterial calcification of infancy. [PDF]

JBMR Plus
Collins L, Sandy J, Ly S, Lomax KE, Black S, McKenzie F, Hayes E, Poulton C, Jefferies C, Hunter W, Simm P, Rodda C, Biggin A, Munns C, Siafarikas A.   +14 more
europepmc   +1 more source

A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic <i>PHEX</i> variants. [PDF]

JBMR Plus
Park YA, Gong JY, Chiang C, Trainer AH, Yates CJ.   +4 more
europepmc   +1 more source

Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia [PDF]

, 2016
Eliane H. Dutra, Ernst J. Reichenberger, I-Ping Chen, Yaling Liu   +3 more
core   +1 more source

Early Dental Manifestations and Multidisciplinary Management of X-Linked Hypophosphatemic Rickets in a Pediatric Patient: A Case Report. [PDF]

Children (Basel)
Mitova N, Petkova-Ninova V, Popova Y.
europepmc   +1 more source