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Publications by Carlos E Fardella

HOMOZYGOUS DELETION OF AMINO ACIDS 487–489 IN P450c17 CAUSES SEVERE 17α-Hydroxylase (17-Oh) DEFICIENCY

Pediatric Research

English

Marcadores De Inflamación Endotelial Subclínica en Una Familia Con Hiperaldosteronismo Familiar Tipo I Por Mutación De Novo

Revista Medica de Chile

English

Related publications

The Regulation of Steroidogenesis by 17.alpha.-Hydroxylase/17,20-Lyase (P450c17).

Folia Pharmacologica Japonica

English

Diagnosis of Female 17α-Hydroxylase Deficiency After Gonadectomy: A Case Report

Journal of Medical Case Reports

English

17 Hydroxylase Deficiency in an Adolescent Girl

Pediatric Research

English

Prevalence of CYP17A1 Gene Mutations in 17α-Hydroxylase Deficiency in the Chinese Han Population

Clinical Hypertension

English

Rac Deletion in Osteoclasts Causes Severe Osteopetrosis

Journal of Cell Science

English

Severe Infantile-Onset Cardiomyopathy Associated With a Homozygous Deletion in Desmin

Neuromuscular Disorders

English

Corrigendum: Prolyl 3-Hydroxylase 1 Deficiency Causes a Recessive Metabolic Bone Disorder Resembling Lethal/Severe Osteogenesis Imperfecta

Nature Genetics

English

Hypertension, Hypokalemia, and Left Adrenal Tumor Mimicking Primary Aldosteronism in a Patient With 17α-Hydroxylase Deficiency

Case Reports in Internal Medicine

English

Myocardial Infarction and Arterial Thrombosis in Severe (Homozygous) FXII Deficiency: No Apparent Causative Relation

Clinical and Applied Thrombosis/Hemostasis

English