Results 71 to 80 of about 2,606 (136)

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

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

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

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

Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature. [PDF]

J Med Case Rep, 2023
Hemmati F, Barzegar H.
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

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

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

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

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

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