Results 41 to 50 of about 1,257 (102)

The Valdivia Project: genetic characterization of a unique Wolfram Syndrome cluster in coastal Ecuador. [PDF]

Orphanet J Rare Dis
Palacio JE, Verdesoto MS, Bautista NL, Segura AJ, Cedeño RC, Flores NJ, Zevallos JC.   +6 more
europepmc   +1 more source

Use, efficacy, and safety of desmopressin for congenital nephrogenic diabetes insipidus in children: a nationwide survey. [PDF]

Endocr J
Ikegawa K, Fujimoto M, Aoyama K, Nakayama H, Kubota T, Nagasaki K, Naganuma S, Ono M, Higuchi S, Mizuno H, Kanzaki S, Morikawa Y, Honda M, Amano N, Hasegawa Y.   +14 more
europepmc   +1 more source

Genetic Insights Into AVP Deficiency: Identification of a Novel AVP Variant and Compilation of a Curated Catalogue of Pathogenic Variants. [PDF]

Clin Genet
Joseph J, Søndergaard E, Knorr S, Knudsen JH, Rittig S, Christensen JH.   +5 more
europepmc   +1 more source

A Hidden Diagnosis: Neurogenic Bladder Leading to Acute Kidney Failure in Wolfram Syndrome. [PDF]

Cureus
Echcharii N, Chekhlabi N, Haoudar A, Dini N.   +3 more
europepmc   +1 more source

Central Diabetes Insipidus as a Rare Cause of Polyuria. [PDF]

Ann Afr Med
Bhandari S, Venkatesh SS, Chirag LU, Gowda R.   +3 more
europepmc   +1 more source

Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy. [PDF]

Diabet Med
L'Amie A, Vincent AL, Jefferies CA, Braatvedt G, Wiltshire E, Mouat F, Albert BB, Murphy R.   +7 more
europepmc   +1 more source

Transient diabetes insipidus in post CABG patient after vasopressin withdrawal: A report. [PDF]

Bioinformation
Singh Pachahara MKJ, Kalra R, Roshan R, Kumar H.   +3 more
europepmc   +1 more source

Pediatric endocrine disorders: a review of intracranial findings and appropriate imaging. [PDF]

Pediatr Radiol
Shatadal A, Vidmar KK, Allen DB, Chapman T.   +3 more
europepmc   +1 more source

A case of Langerhans cell histiocytosis localized in the temporal bone, which presented as sudden sensorineural hearing loss: A case report and review of the literature. [PDF]

SAGE Open Med Case Rep
Davoodi F, Babamohamadi Z, Mokhtarinejad F, Khajavi M, Fallahi M, Abdoli Y.   +5 more
europepmc   +1 more source

A patient with ROHHAD syndrome and leptin-melanocortin pathway gene variations. Correlation or just a coincidence? Case report. [PDF]

Hormones (Athens)
Kostopoulou E, Efthymiadou A, Giannakopoulos A, Chrysis D.   +3 more
europepmc   +1 more source