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PRIMA BRIONES, M.D.
M.D.
Psychiatry Physician
NPI: 1093744112Individual
Specialties, Licenses & Credentials
Psychiatry PhysicianPrimary
Psychiatry & Neurology — Psychiatry
Code: 2084P0800X
17916(GA)
Research & Publications (20)
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.
PMID 19639008·Heredity (Edinb)·2010
8-other
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.
PMID 19608465·J Chromatogr B Analyt Technol Biomed Life Sci·2009
4-observational
Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.
PMID 19508421·Clin Genet·2009
5-case
Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.
PMID 18996107·Clin Biochem·2009
8-other
[Infection-triggered familial or recurrent acute necrotizing encephalopathy].
PMID 19643689·An Pediatr (Barc)·2009
5-case
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).
PMID 19146845·Clin Biochem·2009
4-observational
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy.
PMID 19115482·Autophagy·2009
7-preclinical
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
PMID 19094978·Clin Biochem·2009
5-case
An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.
PMID 19375122·Med Clin (Barc)·2009
8-other
Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.
PMID 18948042·Eur J Paediatr Neurol·2009
8-other
FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.
PMID 19361580·Mitochondrion·2009
8-other
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
PMID 18484665·Hum Mutat·2008
5-case
Mitochondrial diseases associated with cerebral folate deficiency.
PMID 18413591·Neurology·2008
8-other
Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes.
PMID 18387363·Clin Biochem·2008
4-observational
Multiplexed glycoproteomic analysis of glycosylation disorders by sequential yolk immunoglobulins immunoseparation and MALDI-TOF MS.
PMID 18712764·Proteomics·2008
8-other
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
PMID 18329934·Mol Genet Metab·2008
8-other
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.
PMID 17510911·Cerebellum·2007
6-review
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
PMID 17825809·Clin Biochem·2007
8-other
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.
PMID 17999202·Neuromolecular Med·2007
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 1305 REDMOND CIR NW, BUILDING 103 - CLINICAL DIRECTOR'S OFFICE
ROME, GA 30165 - Phone
- (706) 295-6285
Quick Facts
- NPI
- 1093744112
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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