C. Domínguez

发表

Skin biopsy findings in glycogenosis III: Clinical, biochemical, and electrophysiological correlations

M. Roig, C. Navarro, C. Cervera, 1990, Annals of neurology.

Muscle involvement in cholesterol ester storage disease

C. Navarro, S. Sancho, J. Fernández, 1992, Neurology.

Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients

E. Rivas, C. Navarro, C. Fachal, 2006, Acta Neuropathologica.

Late‐onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: Compound heterozygosity for the IVS2+1G→a mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family

X. Montalban, M. Comabella, C. Borrás, 2001, Annals of neurology.

Preparation of Low-Phenylalanine Macro Peptides and Estimation of its Phenylalanine Content by Fluorometric Technique

E. Pérez, A. Mahfoud, Romel Guzmán, 2013 .

Multiple parapelvic cysts in Fabry disease.

X. Serres, E. Espinel, M. Azancot, 2016, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Chorionic villi ultrastructure in the prenatal diagnosis of glycogenosis type II

I. Viéitez, C. Navarro, B. San Millán, 2010, Journal of Inherited Metabolic Disease.

Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle

C. Navarro, C. Cervera, S. Teijeira, 1999, Neuromuscular Disorders.

Bone marrow transplant in a case of mucopolysaccharidosis I Scheie phenotype: skin ultrastructure before and after transplantation

J. Ortega, C. Navarro, C. Domínguez, 2004, Acta Neuropathologica.

Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation

C. Navarro, C. Fachal, M. Alvarez, 1996, Neurology.

[In utero macrocephaly as clinical manifestation of glutaric aciduria type I. Report of a novel mutation].

A. Ribes, A. Mahfoud, C. Rizzo, 2004, Revista de neurologia.

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

M. Roig, K. Anyane-Yeboa, R. Hirschhorn, 2002, Neuromuscular Disorders.

Identification of seven novel SMPD1 mutations causing Niemann–Pick disease types A and B

V. Rodríguez-Sureda, L. Villalón, N. Arslan, 2013, Clinical genetics.

Case report: Four-year follow-up of bone-marrow transplantation in late juvenile metachromatic leukodystrophy

C. Fachal, M. Alvarez, C. Domínguez, 1995, Journal of Inherited Metabolic Disease.