P. Sanz

发表

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

E. Richard, C. Pérez-Cerdá, A. Ribes, 2000, European Journal of Human Genetics.

Non‐ketotic hyperglycinaemia: Glycine/serine ratio in amniotic fluid–an unreliable method for prenatal diagnosis

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1989, Prenatal diagnosis.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Joaquín Dopazo, Rosa Navarrete, Anna López-Sala, 2014, Human mutation.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

C. Pérez-Cerdá, M. Ugarte, M. Palacín, 2013, Molecular genetics and metabolism.

A new case of succinyl-CoA: Acetoacetate transferase deficiency

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1992, Journal of Inherited Metabolic Disease.

Liver transplantation in nine Spanish patients with tyrosinaemia type I

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1995, Journal of Inherited Metabolic Disease.

Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2014, Nucleosides, nucleotides & nucleic acids.

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, European Journal of Pediatrics.

Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1989, Journal of Inherited Metabolic Disease.

First report of prenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in a pregnancy at risk

R. Wanders, C. Pérez-Cerdá, B. Merinero, 1993, Prenatal diagnosis.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

J. Dopazo, B. Merinero, M. Ugarte, 2014, Human mutation.