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Ida Vanessa Doederlein Schwartz

Genetics — Hospital de Clínicas de Porto Alegre, Brazil

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Ida Vanessa Doederlein Schwartz Hospital de Clínicas de Porto Alegre Brazil
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Genetics

Subspecialties: Biochemistry - Neurology - Pediatrics

Full career – Last 3 years

Main Topics

Publications and Clinical Studies

Publications – Clinical Studies

Organizations

Source: Pubmed

Hospital de Clínicas de Porto Alegre

Publications Synthesis

Source: Pubmed

Number : 361

Citations

Citations: 6 693 1st author: 26 Last author: 178 Unique author: 0

Main journals

Mol Genet Metab 77
Mol Genet Metab Rep 19
J Inherit Metab Dis 18
Genet Mol Biol 17
J Pediatr (Rio J) 16

Best Journals

J Hepatol 1
Lancet 1
Science 1

Breakdown by type

Latest Publications

5 most recent indexed articles

Source: Pubmed

Title Journal Year Citations
Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype.
liver diseases, cells, mitochondrial diseases, respiration, phenotype, liver, electron transport complex iii, hyperammonemia		Cells20260
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension Study.
quality of life, blood, phenylalanine, diet, therapeutics, phenylketonurias		Genet Med20260
Novel VARS1 variants define new clinical and molecular subtypes of a rare neurodevelopmental syndrome.
neurodevelopmental disorders, neurodevelopment		Biochim Biophys Acta Mol Basis Dis20260
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
genes, contracture, organelle biogenesis, enzymes		Clin Genet20260
Chronic Granulomatous Disease: Clinical and Molecular Characterization of Brazilian Patients.
genes, granulomatous disease, chronic, lymph nodes, respiratory burst, lymph, pseudogenes		J Gene Med20260

Clinical Studies 4

Source: ClinicalTrials

Synthesis

By phase:

N/A 2
Phase 3 1

By status:

Recruiting 2
Completed 1

By type:

Observational 2
Interventional 1

By Monocentric/Multicentric:

monocentric 1
multicentric2to4 0
multicentric5to9 0
multicentricup10 2

Main Topics

Congenital, Hereditary, and Neonatal Diseases and Abnormalities 3
Nervous System Diseases 3
Nutritional and Metabolic Diseases 3

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Source: Pubmed Source: ClinicalTrials