S. Clavero

发表

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2004, Molecular genetics and metabolism.

Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes

R. Desnick, N. Mohandas, D. Bishop, 2011, Molecular medicine.

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2003, Biochimica et biophysica acta.

Functional characterization of PCCA mutations causing propionic acidemia.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2002, Biochimica et biophysica acta.

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2003, Molecular genetics and metabolism.

Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver

R. Desnick, H. Naik, K. Anderson, 2015, Molecular medicine.

Qualitative and quantitative analysis of the effect of splicing mutations in propionic acidemia underlying non-severe phenotypes

M. Ugarte, B. Pérez, L. Desviat, 2004, Human Genetics.

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

R. Desnick, X. Schneider-Yin, E. Minder, 2010, Blood.

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

U. Giger, R. Desnick, M. Haskins, 2010, Human molecular genetics.

Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation

U. Giger, R. Desnick, M. Haskins, 2010, Molecular medicine.

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2001, Molecular genetics and metabolism.

New splicing mutations in propionic acidemia

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2006, Journal of Human Genetics.

Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses.

U. Giger, R. Desnick, Y. Ahuja, 2013, Veterinary journal.

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R

R. Desnick, I. Nazarenko, M. Balwani, 2011, Journal of Inherited Metabolic Disease.

Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

U. Giger, R. Desnick, M. Haskins, 2010, Human molecular genetics.