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AMAYA ORMAZABAL, M.D.
M.D.
Diagnostic Radiology Physician
NPI: 1801809504IndividualAccepts Medicare
Specialties, Licenses & Credentials
Pediatric Radiology Physician
Radiology — Pediatric Radiology
Code: 2085P0229X
C139262(CA)MD00045491(WA)
Diagnostic Radiology PhysicianPrimary
Radiology — Diagnostic Radiology
Code: 2085R0202X
MD00045491(WA)C139262(CA)
Education
UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL SCHOOL AT DALLAS
Class of 2000
Research & Publications (20)
Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.
PMID 18294893·Mol Genet Metab·2008
8-other
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.
PMID 16624264·Clin Chim Acta·2006
8-other
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment.
PMID 16435178·J Inherit Metab Dis·2005
8-other
Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid.
PMID 16429378·Neuropediatrics·2005
3-trial
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins.
PMID 15652629·J Neurosci Methods·2005
8-other
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Córdoba (southern Spain).
PMID 19533203·J Neurol·2009
8-other
Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment.
PMID 18572337·Brain Dev·2009
3-trial
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
PMID 19304569·J Med Genet·2009
5-case
Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.
PMID 18790694·Clin Biochem·2008
6-review
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
PMID 18024216·Mol Genet Metab·2008
5-case
Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies.
PMID 17714901·Brain Dev·2008
8-other
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
PMID 17825809·Clin Biochem·2007
8-other
Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency.
PMID 17368676·J Neurol Sci·2007
5-case
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.
PMID 17698383·Mol Genet Metab·2007
5-case
Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.
PMID 18058624·Neuropediatrics·2007
8-other
[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].
PMID 16827996·Med Clin (Barc)·2006
8-other
Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency.
PMID 16624273·Clin Biochem·2006
8-other
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.
PMID 16365882·Ann Neurol·2006
5-case
Methods for the diagnosis of creatine deficiency syndromes: a comparative study.
PMID 16621013·J Neurosci Methods·2006
4-observational
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 4647 ZION AVE
SAN DIEGO, CA 92120 - Phone
- (619) 528-5538
Quick Facts
- NPI
- 1801809504
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Accepted
- Specialties
- 4
- Locations
- 1
- Years in Practice
- 26
- Publications
- 20
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