Results 141 to 150 of about 13,710 (218)

The oculocerebrorenal syndrome of Lowe: an update [PDF]

, 2016

core   +1 more source

Case Report: Nephrocalcinosis from pancreatic hypoplasia in HNF1B disease: a multigenerational expression with genetic confirmation in the youngest generation. [PDF]

Front Med (Lausanne)
Gopireddy NSR, Grover S, Khawaja I, Mudarres MF, Rastogi P, Story M, Thomas CP.   +6 more
europepmc   +1 more source

Approach to Renal Tubular Acidosis - A Review. [PDF]

Indian J Endocrinol Metab
Das S, Agarwal V, Paul TV, Cherian KE.
europepmc   +1 more source

Enzyme-replacement therapy in life-threatening hypophosphatasia [PDF]

, 2012
et al,, McAlister, William H, Whyte, Michael P   +2 more
core   +2 more sources

First Report of Nephrocalcinosis in Aquacultured Brazilian Sardine (Sardinella brasiliensis Steindachner, 1879). [PDF]

J Fish Dis
Vieira DS, Farias CFS, Owatari MS, Martins ML, Brum A, Magnotti C.   +5 more
europepmc   +1 more source

[Nephrocalcinosis].

Srpski arhiv za celokupno lekarstvo, 1998
L N, PYRAH, A, HODGKINSON
  +6 more sources

Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach. [PDF]

Biomolecules
Pięta J, Szyszka M, Lipiński P, Skrzypczyk P.   +3 more
europepmc   +1 more source

Unexpected severe hypercalcemia in a 6-year-old child with hypoparathyroidism and feeding difficulties. [PDF]

JCEM Case Rep
Torchinsky MY, Miller MD.
europepmc   +1 more source

A Novel SLC9A3R1 Mutation as a Rare Cause of Infantile Hypercalcemia. [PDF]

Cureus
Ravi Kumar P, Biswas A, Dash DK, Patro D, Madhav Reddy DS.   +4 more
europepmc   +1 more source

A novel mutation within the lactase gene (): the first report of congenital lactase deficiency diagnosed in Central Europe [PDF]

core   +1 more source