Results 101 to 110 of about 187,796 (197)

X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case. [PDF]

Acta Neurochir (Wien)
Czarnetzki C, Mollica C, Buri J, Egervari K, Schaller K, Molliqaj G, Trombetti A, Nouri A, Tessitore E.   +8 more
europepmc   +1 more source

Familial cancer /

, 1985
First international research conference on familial cancer, Basel, September 16-21 ...
Müller, Hj.,, Weber, W.,, International research conference on familial cancer1stSeptember 16-21, 1985Basel   +2 more
core  

Recurrent Thyrotoxic Periodic Paralysis Precipitated by Alcohol: A Case Report of Diagnostic Delay in a Young Male With Graves' Disease. [PDF]

Cureus
Bannoud M, Hong L, Woo D, Daniels ZR, Alkatifi A.   +4 more
europepmc   +1 more source

Case Report: Deep intronic <i>PHEX</i> variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia. [PDF]

Front Endocrinol (Lausanne)
Spranger S, Faust H, Duffek P, Schubert S, Skladny H, Kovacs P, Tönjes A, Popp D.   +7 more
europepmc   +1 more source

X-linked hypophosphatemia in the presence of a <i>CLDN16</i> variant: implications for renal handling and disease severity. [PDF]

JCEM Case Rep
Jang SA, Kim KM, Rhee Y.
europepmc   +1 more source

Pain medication use in patients with X-linked hypophosphatemia treated with burosumab: a retrospective real-world study. [PDF]

JBMR Plus
Macica CM, Li Z, Johnson B, Noman A, Park C, Woods GN.   +5 more
europepmc   +1 more source

[Familial hypophosphatemia].

Revista medica de Chile, 1965
R, Friedler, G, Murray, H, García, E, Katz   +3 more
openaire   +1 more source

X-Linked Hypophosphatemia Caused by a New Partial Insertion of LINE-1 in the <i>PHEX</i> Gene. [PDF]

Hum Mutat
Li D, Peng W, Kang L, Geng J, Lu Y, Lu J.   +5 more
europepmc   +1 more source

Effects of Gender, Menopause, Vitamin D Status, and Tumor Parathyroid Cell Activity on Serum Phosphate Levels in a Large Cohort of Patients with Sporadic Hypercalcemic Primary Hyperparathyroidism. [PDF]

Int J Mol Sci
Corbetta M, Carrara S, Dal Lago A, Mirsepanj R, Ruotolo E, Sardella C, Leo G, Cetani F, Corbetta S.   +8 more
europepmc   +1 more source

Case Report: Unusual electrolyte changes in primary hyperparathyroidism-a call to suspect underlying Gitelman syndrome. [PDF]

Front Endocrinol (Lausanne)
Shantha DWA, Waidyatilleke SR, Senevirathne KP, Dhanushkar R, Jayawickreme KP, Dassanayake BK, Dalugama C, Pathirage M.   +7 more
europepmc   +1 more source