Prof. Dr. Angels Garcia Cazorla
pediatric congenital metabolic diseases
pediatric congenital metabolic diseases
Overview
Country, City
Spain, Barcelona
Health facility
University Pediatric Hospital Sant Joan de Deu Barcelona
Medical unit
Department of pediatric congenital metabolic diseases
About the doctor
Skills & Expertise
deficiency
metabolism
cerebrospinal fluid
inborn errors metabolism
urea cycle disorders
children
aciduria
epilepsy
rett syndrome
tyrosine
tyrosine hydroxylase
cognitive
newborn screening
encephalopathy
coenzyme
dehydrogenase
amines
parkinsonism
biogenic amines
neurology
defects
glutaric aciduria
homocystinuria
coenzyme q10
folate deficiency
hypertension
tetrahydrobiopterin bh4 deficiencies
cerebrospinal fluid neopterin
blood
neurotransmitter
neurological disorders
levodopa
urine
carglumic acid
ammonia
dlp1
cognitive function
muscle
neurometabolic disorders
decarboxylase aadc deficiency
serotonin
17hydroxysteroid
tyrosine hydroxylase deficiency
hyperoxaluria
metabolic neurology
hormone resistance
grin2brelated pediatric encephalopathy
severity argininosuccinic aciduria
lserine dietary supplementation
growth hormone resistance
Resume
CV (Curriculum Vitae)
Education
- 1993 Graduated in Medicine and Surgery from the University of Barcelona, Spain
- 1997 Specialist in Pediatrics from the Autonomous University of Barcelona, Spain
- 2005 Doctor of Medicine (European doctorate) from the Autonomous University of Barcelona, Spain
- 2009 Master in Neuroscience and Behavioral Biology, Pablo de Olavide University
Experience
- 1998-2000 Internal physician at the Department of Metabolic Diseases, Neurology and Genetics of the Necker Hospital, Paris
- 2007-2008 Post-doctoral research training at the Department of Neurology, Columbia University, New York
- 2012 Associate Professor at the University of Barcelona, Spain
- Head of the Metabolic Disease Unit at the University Pediatric Hospital Sant Joan de Deu Barcelona, Spain
Awards & Memberships
- Member of the scientific committee of the Rare Diseases Foundation
Languages
English
Spanish
Catalan
Publications
Severity of GNAO1-related disorder correlates with changes in G-protein function.
7 August, 2023
Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods.
6 August, 2023
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
August, 2023
Location
Pg. de Sant Joan de Déu, 2, 08950 Barcelona, Spain
FAQ
Where does the doctor practice?
What is the specialization of Prof. Dr. Angels Garcia Cazorla?
The primary specialization of the doctor is pediatric congenital metabolic diseases.
What is the experience of the specialist?
Prof. Dr. Angels Garcia Cazorla has been practicing for more than 31 years.
Prof. Dr. Angels Garcia Cazorla
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