Celia Pérez‐Cerdá

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2

Óscar Rubio Cabezas, Sarah E. Flanagan, Horia Stanescu et al. · Journal of the American Society of Nephrology · 2017 · 111 citations · Full text

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jos C. Jansen, Sebahattin Çirak, Monique van Scherpenzeel et al. · The American Journal of Human Genetics · 2016 · 97 citations · Full text

Abnormal Protein Glycosylation, Biochemistry, Disease Mechanism +11

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist et al. · Genetics in Medicine · 2016 · 97 citations · Full text

Metabolic Syndrome, Metabolic Disorder, Genetic Disorder +8

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (<i>cblC</i>) with homocystinuria (MMACHC)

Eva Richard, Ana Jorge‐Finnigan, Judit García‐Villoria et al. · Human Mutation · 2009 · 95 citations

Genetics, Genetic Epidemiology, Human Polymorphism +17

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

M. Esther Gallardo, Lourdes R. Desviat, José Manuel Rodríguez Rodríguez et al. · The American Journal of Human Genetics · 2001 · 85 citations · Full text

Urology, Biochemistry, Catabolism +4