Results 111 to 120 of about 8,162 (152)

Beyond expensive innovations: affordable and effective strategies for managing tubulopathies in adults. [PDF]

Clin Kidney J
Nielsen L, Figueres L.
europepmc   +1 more source

Furosemide-Induced Nephrocalcinosis in Premature Neonates: A Critical Review of Observational Data. [PDF]

Children (Basel)
Dotis J, Skarlatou A, Fourikou M, Papadopoulou A, Chochliourou E.   +4 more
europepmc   +1 more source

Persistent Hypercalcemia Despite Parathyroidectomy for Primary Hyperparathyroidism in an Adult with Nephrocalcinosis and Nephrolithiasis Caused by a Novel Combination of Two Pathogenic <i>CYP24A1</i> Mutations. [PDF]

Int J Mol Sci
Zhang S, Muendlein A, Meusburger E, Zitt E.   +3 more
europepmc   +1 more source

Urinary calcium and bone resorption markers during 3 years of denosumab treatment in pediatric osteogenesis imperfecta. [PDF]

JBMR Plus
Stasek S, Reincke S, Rehberg M, Semler O, Hoyer-Kuhn H.   +4 more
europepmc   +1 more source

A Rare Case of Congenital Glucose Galactose Malabsorption Due to SLC5A1 Mutation. [PDF]

Cureus
Muralidharan H, Sajith A, ElSayed N, Syed Iqbaluddin J, Gupta P, Ahmed Babiker Rahamtalla D.   +5 more
europepmc   +1 more source

[Ultrasound diagnosis of nephrocalcinosis in an infant with recurrent vomiting]. [PDF]

Aten Primaria
Carrasco Hidalgo-Barquero MC, Ortiz-Peces L, Ortiz-González L.   +2 more
europepmc   +1 more source

Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort. [PDF]

Front Genet
Alsagheir A, Mcrabi A, Alquayt M, Alhuthil R, Alawi A, Faqeih E, Alabdullatif AT, Homyani DA, AlJohany A, AlOtaibi M, Rabea M, AlSayed H, Al-Hamed MH.   +12 more
europepmc   +1 more source

Spontaneous Pregnancy in Genetically Confirmed 11-Beta Hydroxylase Deficiency: A Case Series and Literature Review. [PDF]

Cureus
Machineni P, Ranjan A, Asirvatham AR, Gupta K, Mahadevan S.   +4 more
europepmc   +1 more source

The kidney in genetic metabolic disorders. [PDF]

Med Genet
Schultheiss UT, Schumann A.
europepmc   +1 more source

Controlled access to lumasiran in primary hyperoxaluria type 1: evaluation of a new access route for orphan drugs in the Netherlands. [PDF]

Nephrol Dial Transplant
Deesker LJ, Franssen CFM, Dorresteijn E, van de Kar NCAJ, Nurmohamed SA, Severs D, Garrelfs SF, Pisters-van Roy AAMG, Hollak CEM, Groothoff JW.   +9 more
europepmc   +1 more source