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Novel phenotype of COASY deficiency is characterized by fatal neonatal hepathopathy with severe hypoglycaemia, hyperammonaemia and lactic acidosis.

Subjects: *LACTIC acidosis; *HYPOGLYCEMIA; *PHENOTYPES

  • Source: BBA - Bioenergetics. 2024 Supplement, Vol. 1865, pN.PAG-N.PAG. 1p.

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ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.

Subjects: *LACTIC acidosis; *NICOTINAMIDE; *BLOOD testing

  • Source: Mitochondrion. Sep2024, Vol. 78, pN.PAG-N.PAG. 1p.

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MITOCHONDRIAL DISEASES: EP.218 Adult-onset Leigh syndrome / lactic acidosis and stroke-like episodes overlap syndrome due to m9176T>C mutation with cortical involvement.

Subjects: *MELAS syndrome; *LACTIC acidosis; *MITOCHONDRIA

  • Source: Neuromuscular Disorders. 2021 Supplement 1, Vol. 31, pS115-S116. 2p.

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A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant.

Subjects: *HYPERTROPHIC cardiomyopathy; *LACTIC acidosis; *GENETIC mutation

  • Source: Gene. Jul2024, Vol. 914, pN.PAG-N.PAG. 1p.

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Hyperglycemic Crisis in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS).

Subjects: *MELAS syndrome; *LACTIC acidosis; *MITOCHONDRIA

  • Source: Pediatric Neurology. Jan2021, Vol. 114, p1-4. 4p.

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Severe linezolid-induced lactic acidosis in a child with acute lymphoblastic leukemia: A case report.

Subjects: *LYMPHOBLASTIC leukemia; *LACTIC acidosis; *ACUTE leukemia

  • Source: Journal of Infection & Chemotherapy (Elsevier Inc.). Dec2020, Vol. 26 Issue 12, p1316-1318. 3p.

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Hemophagocytic Lymphohistiocytosis in Renal Transplant Recipients: A 2-Case Report.

Subjects: *KIDNEY transplantation; *LACTIC acidosis; *BONE marrow

  • Source: Transplantation Proceedings. Jun2020, Vol. 52 Issue 5, p1566-1569. 4p.

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Development of a sensitive double TaqMan Probe-based qPCR Angle-Degree method to detect mutation frequencies.

Subjects: *MITOCHONDRIAL DNA; *LACTIC acidosis; *NEURODEGENERATION

  • Source: Mitochondrion. May2023, Vol. 70, p1-7. 7p.

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Cerebrospinal fluid ATP as a potential biomarker in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS).

Subjects: *LACTIC acidosis; *CEREBROSPINAL fluid examination; *CEREBROSPINAL fluid

  • Source: Mitochondrion. Jan2020, Vol. 50, p145-148. 4p.

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Reversible Acute Blindness in Suspected Metformin-Associated Lactic Acidosis.

Subjects: *LACTIC acidosis; *TYPE 2 diabetes; *BLINDNESS

  • Source: Journal of Emergency Medicine (0736-4679). Nov2019, Vol. 57 Issue 5, pe153-e156. 4p.

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  • 1-10 of  202 results for ""Acidosis, Lactic""