Results 31 to 40 of about 1,020 (91)

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

Hyperammonemic encephalopathy after 5-fluorouracil chemotherapy. [PDF]

CMAJ
Salimi P, Soriano A, Crocker E, Goldenberg B.   +3 more
europepmc   +1 more source

Potentially Hazardous Drugs in the Paediatric ICU: A Narrative Review on the Exemplary Cases of Propofol, Chloramphenicol, and Acetylsalicylic Acid. [PDF]

Children (Basel)
Beckers L, Verbruggen J, Saldien V, De Dooy J, van Zanten E, Peros T, Wiggelinkhuizen M, Jorens PG.   +7 more
europepmc   +1 more source

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target. [PDF]

J Inherit Metab Dis
Zeyer KA, Tholen S, Schilling O, Gerling L, Morath M, Kölker S, Nyström A, Spiekerkoetter U, Schumann A.   +8 more
europepmc   +1 more source

Lipids in kidney diseases: from systemic imbalance to intrarenal alterations of cellular lipid metabolism in rare and common kidney diseases. [PDF]

J Mol Med (Berl)
Garavaglia C, Ossoli A, Gomaraschi M.
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

Pathophysiology of the Neutropenia of GSDIb and G6PC3 Deficiency: Origin, Metabolism and Elimination of 1,5-Anhydroglucitol. [PDF]

J Inherit Metab Dis
Veiga-da-Cunha M, Gannoun L, Dewulf J, Van Schaftingen E.   +3 more
europepmc   +1 more source

Whole exome sequencing in pediatric hyperammonemia: significant diagnostic yield and identification of three novel variants. [PDF]

BMC Med Genomics
Hajati R, Hashemian F, Salehpour S, Sayad A.   +3 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

Whole exome sequencing reveals a pathogenic homozygous CLDN16 mutation in a 17-year-old patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis: A case report. [PDF]

Medicine (Baltimore)
Wang F, Adeerjiang Y, Xing HQ, Jiang S.
europepmc   +1 more source