Prof. Dr. Francesc Palau Martinez, Ph.D.
rare pediatric diseases, genetics
rare pediatric diseases, genetics
Overview
Country, City
Spain, Barcelona
Health facility
University Pediatric Hospital Sant Joan de Deu Barcelona
Medical unit
Department of rare pediatric diseases, genetics
About the doctor
Skills & Expertise
ataxia
gene
genetics
neuropathy
friedreichs ataxia
dystrophy
frataxin
cerebellar
chromosome
celiac
axonal charcotmarietooth
children
deficiency
neuropathies
hereditary neuropathy
palsies
epilepsy
pressure palsies
cerebellar ataxias
calcium
neurons
microbiota
cmt1a
neuromuscular
infants
muscle
gdap1 gene
metabolism
pediatrics
gene ankk1
gdap1related charcotmarietooth
myotonic dystrophy
vocal cord
muscular dystrophy
intestinal microbiota
glycolytic metabolism
gdap1associated neuropathy
pmp22 gene
11q23 abnormalities
congenital myopathy
frataxin deficiency
axonal dystrophy
muscle fibers
structural epilepsy
gria3 gene
pediatric genetics
epileptic encephalopathy
coenzyme q10 deficiency
acute nonlymphocytic leukemia
mimicking structural epilepsy
Resume
CV (Curriculum Vitae)
Education
- 1982 Bachelor of Medicine and Surgery, University of Valencia, MD
- 1988 Specialist in Pediatrics, Children's Hospital, Hospital Universitari La Fe, Valencia
- 1989 Doctor of Medicine (Ph.D.), University of Valencia
- 2000 Accreditation in Human Genetics, Spanish Association of Human Genetics
- 2000 Accreditation in Clinical Genetics and Dysmorphology, Spanish Association of Pediatrics
Experience
- 2015 Associate Professor of Pediatrics, Faculty of Medicine, University of Barcelona, Spain
- Director of the Pediatric Institute for Rare Diseases and Head of the Genetics Service at the Hospital Sant Joan de Deu, Spain
Awards & Memberships
- Member, Scientific Advisory Committee of Telethon Italia and of the Fondation de Maladies Rares of France
- Reina Sofía Award for Impairment Prevention
Languages
English
Spanish
Catalan
Publications
Location
Pg. de Sant Joan de Déu, 2, 08950 Barcelona, Spain
FAQ
Where does the doctor practice?
What is the specialization of Prof. Dr. Francesc Palau Martinez, Ph.D.?
The primary specialization of the doctor is rare pediatric diseases, genetics.
What is the experience of the specialist?
Prof. Dr. Francesc Palau Martinez, Ph.D. has been practicing for more than 42 years.
Prof. Dr. Francesc Palau Martinez, Ph.D.
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© Prof. Dr. Francesc Palau Martinez, Ph.D.