J. A. Camacho

发表

Efficacy of rasburicase in hyperuricemia secondary to Lesch-Nyhan syndrome.

A. Roche, R. Artuch, À. García‐Cazorla, 2009, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria.

C. Antignac, X. Lens, R. Torra, 2002, Journal of the American Society of Nephrology : JASN.

Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease

E. Ars, J. Ballarín, R. Torra, 2014, Pediatric Nephrology.

Expression pattern of neuronal and skeletal muscle voltage‐gated Na+ channels in the developing mouse heart

C. Bollensdorff, T. Zimmer, K. Benndorf, 2005, Journal of Physiology.

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

G. Ariceta, F. Santos, J. A. Camacho, 2015, European Journal of Pediatrics.

Haemolytic-Uraemic Syndrome: Neurologic Symptoms, Neuroimaging and Neurocognitive Outcome

J. A. Camacho, A. Martínez, P. Argüelles, 2011 .

New approach to osteopenia in phenylketonuric patients

B. Pérez-Dueñas, M. Vilaseca, J. Campistol, 2002, Acta paediatrica.

Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: successful in children and a challenge in adolescents and adults

G. Ariceta, F. Santos, F. Oppenheimer, 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A coordinated transition model for patients with cystinosis: from pediatric to adult care

R. Torra, G. Ariceta, G. Pintos-Morell, 2016 .

A coordinated transition model for patients with cystinosis: from pediatrics to adult care.

R. Torra, G. Ariceta, G. Pintos-Morell, 2016, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Cystinosis in adult and adolescent patients: Recommendations for the comprehensive care of cystinosis.

R. Torra, G. Ariceta, F. Oppenheimer, 2015, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Modulation of Nav1.5 Channel Function by an Alternatively Spliced Sequence in the DII/DIII Linker Region*

T. Zimmer, K. Benndorf, J. Rougier, 2006, Journal of Biological Chemistry.

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

P. Fernández-Llama, E. Ars, J. Ballarín, 2009, Kidney international.

TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis.

P. Fernández-Llama, E. Ars, J. Rosell, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

F. Claverie-Martin, C. Flores, C. Vicente, 2007, Journal of Human Genetics.

Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies.

X. Estivill, P. Harris, R. Torra, 1998, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Selective screening for hyperhomocysteinemia in pediatric patients.

R. Artuch, M. Pineda, M. Vilaseca, 1998, Clinical chemistry.

Mutations in the COL 4 A 4 and COL 4 A 3 Genes Cause Familial Benign Hematuria

C. Antignac, X. Lens, R. Torra, 2002 .

Region-specific alterations of global protein expression in the remodelled rat myocardium.

T. Zimmer, F. von Eggeling, C. Melle, 2006, International journal of molecular medicine.