Results 161 to 170 of about 97,536 (245)

Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience. [PDF]

Int J Neonatal Screen
Jia X, Xie T, Jiang X, Tang F, Tan M, Chen Q, Liu S, Huang Y, Tao L.   +8 more
europepmc   +1 more source

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution. [PDF]

Eur J Hum Genet
Lildballe DL, Huno MR, Ridder LOR, Balle CM, Drue SO, Berglund A, Dunø M, Bak EN, Viuff MH, Rasmussen LS, Gravholt CH.   +10 more
europepmc   +1 more source

Uncontrolled hypertension in siblings: an unsuspected diagnosis. [PDF]

AJOG Glob Rep
Aleem S, Kumar S, Guddeti A, Hari Kumar K.   +3 more
europepmc   +1 more source

Machine Learning and Blood-Targeted Proteomics Enable Early Prediction and Etiological Discrimination of Hypertensive Pregnancy Disorders. [PDF]

Int J Mol Sci
Starodubtseva N, Tokareva A, Kononikhin A, Bugrova A, Indeykina M, Kukaev E, Poluektova A, Brzhozovskiy A, Nikolaev E, Sukhikh G.   +9 more
europepmc   +1 more source

Continuous subcutaneous hydrocortisone infusion in pediatric primary adrenal insufficiency: a cohort study. [PDF]

Endocr Connect
Fouatih K, Trouvin MA, Lambert AS, Rothenbuhler A, Verdelet T, Lecoq AL, Bouligand J, Laddada L, Chappell K, Lopez M, Bouyacoub M, Yahia A, Haidar H, Trabado S, Linglart A, Bouvattier C, Ait Tayeb AEK.   +16 more
europepmc   +1 more source

Restoration of bone mineral density in a patient with congenital adrenal hyperplasia using hydrocortisone pump therapy. [PDF]

JCEM Case Rep
Gorrigan R, Todd B, Honour JW, Hindmarsh PC.   +3 more
europepmc   +1 more source

The Use of Routine Laboratory 17-Hydroxyprogesterone for Identification of Cases of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia. [PDF]

Clin Endocrinol (Oxf)
McElvaney J, Ali SR, Frank AR, Longmuir S, McNeilly J, Alimussina M, McGowan R, Faisal Ahmed S.   +7 more
europepmc   +1 more source

Case Report: Challenges of an extremely delayed diagnosis of classic congenital adrenal hyperplasia in a completely virilized 46,XX patient. [PDF]

Front Endocrinol (Lausanne)
Casiraghi A, Campi I, Federici S, Cernigliaro F, Menabò S, Persani L.   +5 more
europepmc   +1 more source

Case Report: Compound heterozygous mutation comprising p.Pro31Leu and exons 1-3 ins/del variants in <i>CYP21A2</i> causes non-classical congenital adrenal hyperplasia in a Chinese girl. [PDF]

Front Pediatr
Li N, Lu C, Gu HF, An X.
europepmc   +1 more source