Results 41 to 50 of about 1,020 (91)

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis caused by CLDN16/CLDN19 mutations in four Chinese families. [PDF]

Sci Rep
Wang C, Ding J, Yang H, Huang L, Wang X.
europepmc   +1 more source

Monogenic lupus with SLC7A7 mutations: a retrospective study from a Chinese center. [PDF]

Orphanet J Rare Dis
Li Y, Lv Q, Lu W, Liu H, Feng J, Guan W, Gong Y, Zeng Q, Zhang X, Xu H, Sun L.   +10 more
europepmc   +1 more source

Long-Term Follow-Up of Patients With Transaldolase Deficiency. [PDF]

J Inherit Metab Dis
Scaglione M, Brassier A, Wiedemann A, Jankowska I, Pawłowska J, Lamireau T, Bridoux-Henno L, Douillard C, Casswall T, Cucinotta U, Gaschignard M, Socha P, Feillet F, Fischler B, Samara-Boustani D, Schiaffino MC, Schiff M, De Lonlay P, Lacaille F.   +18 more
europepmc   +1 more source

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source

Renal hypouricemia type 2 in a patient with latent autoimmune diabetes in adults: a case report and literature review. [PDF]

BMC Nephrol
Cui Y, Liu H, Dong R.
europepmc   +1 more source

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile. [PDF]

JIMD Rep
Penicaud R, Ferron JB, Valette X, Bauduin P, Faisant M, Schiff M, Nguyen A, Fontaine F, Allouche S.   +8 more
europepmc   +1 more source

Endocrine system disturbances in children with inherited metabolic diseases: a narrative review. [PDF]

Front Endocrinol (Lausanne)
Tagi VM, Fiori L, Montanari C, Tonduti D, Ferrario M, Gambino M, Greco IP, Cecchini A, Calcaterra V, Zuccotti G, Verduci E.   +10 more
europepmc   +1 more source

Gene modification: Exploring the potential in treating kidney diseases. [PDF]

Pharmacol Res
Ekperikpe US, Zhao S, Daehn IS.
europepmc   +1 more source

Effects of anserine on oxidative stress and on cell barrier integrity in methylmalonic aciduria. [PDF]

Sci Rep
Köpfer F, Bartosova Medvid M, Fleming T, Pfeffer T, Okun JG, Kölker S, Hoffmann GF, Schmitt CP, Morath M, Peters V.   +9 more
europepmc   +1 more source