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1
A Rare Case of Glutaric Acidemia Type 2 With Psychosis
Published 2021-01-01Subjects: “…neurometabolic disorder; organic aciduria; psychosis…”
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2
Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
Published 2023-04-01Subjects: Get full text
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3
Sibling Screening of a Case of Pyroglutamic Aciduria Resulting in Normal Development- A Case Report
Published 2018-04-01Subjects: Get full text
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4
Features of clinical manifestations and treatment of individual nosological forms of hereditary metabolic diseases
Published 2021-06-01Subjects: Get full text
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5
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
Published 2018-06-01Subjects: Get full text
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6
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways
Published 2020-04-01Subjects: Get full text
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7
Diversion of Acetyl CoA to 3-Methylglutaconic Acid Caused by Discrete Inborn Errors of Metabolism
Published 2022-04-01Subjects: “…organic aciduria…”
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8
Methylmalonic Acidemia- A Rare Inborn Error of Metabolism
Published 2016-04-01Subjects: Get full text
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9
Impaired lipolysis in propionic acidemia: A new metabolic myopathy?
Published 2020-05-01Subjects: Get full text
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11
Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics
Published 2019-10-01Subjects: Get full text
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12
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
Published 2012-05-01Subjects: Get full text
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13
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
Published 2023-09-01Subjects: Get full text
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14
Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center
Published 2019-04-01Subjects: “…Organic acidurias…”
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15
Clinical Course of Methylmalonic Aciduria in Siblings: Two Clinical Cases
Published 2024-05-01Subjects: Get full text
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16
Long-term N-carbamylglutamate treatment of hyperammonemia in patients with classic organic acidemias
Published 2021-03-01Subjects: Get full text
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17
Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma
Published 2021-03-01Subjects: Get full text
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18
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria
Published 2016-09-01Subjects: Get full text
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19
GLUTARIC ACIDEMIA TYPE 1: A CASE REPORT FROM PAKISTAN
Published 2022-03-01Subjects: Get full text
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20
Enasidenib‐induced hepatitis in an individual with Type II D2‐hydroxyglutaric aciduria
Published 2024-05-01Subjects: Get full text
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