Results 101 to 110 of about 8,162 (152)

Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center. [PDF]

Orphanet J Rare Dis
Sayed B, Alhuthil R, Saadeh S, Al-Shareef T, Alhassoun I, Al-Sabban E.   +5 more
europepmc   +1 more source

Effect of burosumab conversion on calciuria and nephrocalcinosis in children with XLH: A real-world cohort study. [PDF]

Bone Rep
Filler G, Chandrakumaran H, Babalola F, Emile D, Huang SS, Stein R.   +5 more
europepmc   +1 more source

When teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood. [PDF]

Pan Afr Med J
Nouir S, Boukadida R, Hannachi S, Harbi A, Mokni H, Ajmi H, Mabrouk S.   +6 more
europepmc   +1 more source

Congenital Glucose-Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis. [PDF]

Pediatr Rep
Goel M, Suthar R, Dawman L.
europepmc   +1 more source

Inherited Type-1 renal tubular acidosis with short stature: a rare case report from Nepal. [PDF]

Ann Med Surg (Lond)
Singh DK, Rai A, Maskey R.
europepmc   +1 more source

Hypercalcemia of Down Syndrome. [PDF]

JCEM Case Rep
Lamb S, Litao M, Talib N, Redel J.
europepmc   +1 more source

Current status of primary hyperoxaluria type 1 in Japan. [PDF]

Urolithiasis
Ogawa T, Okamoto K, Yamamoto M, Sato Y, Ushijima K, Numahata D, Takeshita H, Inai H, Onozawa M, Miyazaki J, Takayama T.   +10 more
europepmc   +1 more source

Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous <i>CYP24A1</i> pathogenic variant. [PDF]

J Rare Dis (Berlin)
Abouzeina M, Mead P, Okpongete R, Mabillard H, Geraghty R, Sayer JA.   +5 more
europepmc   +1 more source

Nephrocalcinosis.

Minnesota medicine, 1969
openaire   +1 more source

Sjogren Disease and Nephrolithiasis: A Case Series and Review of the Literature. [PDF]

Clin Pract
Schroeder B, Siva C, Liu CS.
europepmc   +1 more source