Results 91 to 100 of about 11,040 (189)

Clinical data and biochemical results of four patients with hypophosphatemic rickets from two Indian families.

, 2015
Clinical data and biochemical results of four patients with hypophosphatemic rickets from two Indian families.
Sidharth K. Sethi (759840), Sara L. Ma (759837), Matthew G. Sampson (486487), Virginia Vega-Warner (267776), Christopher Gillies (759838), Vijay Kher (759839), Edgar A. Otto (267795)   +6 more
core   +1 more source

Hypophosphatemic rickets [PDF]

, 2020
openaire   +3 more sources

Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report

The Turkish Journal of Pediatrics, 1997
Epidermal nevus syndrome is characterized by congenital anomalies affecting multiple body systems, especially the skin, skeleton and central nervous system.
A Tokatli, T Coşkun, I Ozalp
doaj  

Radiographic dilemma of four systemic bone diseases: rickets, osteomalacia, renal osteodystrophy, and hypophosphatemic rickets [PDF]

Objectives: Rickets, osteomalacia, renal osteodystrophy, and hypophosphatemic rickets are systemic diseases that have the same characteristics, namely the condition of bone softening or weak bone conditions.
Epsilawat, Lusi, Rahasdini, Puri
core   +1 more source

Genetic mapping in the Xp11.2 region of a new form of X-linked hypophosphatemic rickets.

, 1993
Human X-linked dominant hypophosphatemic rickets (HPDR I) is characterized by hypophosphatemia, hyperphosphaturia, abnormal vitamin D metabolism, and rickets/osteomalacia.
DEVOTO, MARCELLA, A. Bolino, C. Zoccali, J. Weissenbach, G. Romeo, G. Enia   +5 more
core  

Molecular Pathogenesis of Hypophosphatemic Rickets [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2002
Suzanne M, Jan de Beur, Michael A, Levine   +1 more
openaire   +2 more sources

Autosomal dominant hypophosphatemic rickets caused by a novel pathogenic variant in <i>FGF23</i>. [PDF]

JCEM Case Rep
Francis B, Ashok V, Ashraf A, Sasidharan Pillai S.   +3 more
europepmc   +1 more source

When X Does Not Mark the Spot: Autosomal Dominant and Recessive Forms of Renal Hypophosphatemic Rickets and Osteomalacia. [PDF]

Curr Osteoporos Rep
Ferreira CR, Imel EA.
europepmc   +1 more source

The management of siblings with familial hypophosphatemic rickets

, 1983
Two siblings (boy and girl) born to a mother with familial hypophosphatemic rickets had abnormal values of serum phosphorus and serum alkaline phosphatase at the age of six weeks. At this age therapy with 1 alpha-hydroxycholecalciferol (1 alpha OHD3) and
Megreli, C., Edelstein, S., Lapatsanis, P. D., Sbyrakis, S.   +3 more
core  

X-linked Hypophosphatemic Rickets Revealed by Exome Sequencing: A Pediatric Case Report of a PHEX Pathogenic Variant. [PDF]

Cureus
Larbi Ouassou K, Amale H, Abilkassem R.
europepmc   +1 more source