Persistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Clinical genetics·2016

Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax.

Oncogene·2009

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

Journal of medical genetics·2009

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Human mutation·2008

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.

Clinical genetics·2007

A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.

Neuropediatrics·2007

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Journal of inherited metabolic disease·2026

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Journal of inherited metabolic disease·2026

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Journal of inherited metabolic disease·2026

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Journal of inherited metabolic disease·2026

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Journal of inherited metabolic disease·2026

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Journal of inherited metabolic disease·2026

Prenatal diagnosis of severe glutaric acidemia type II due to a novel homozygous ETFDH frameshift variant: Case report and literature review.

Turkish journal of obstetrics and gynecology·2026

Emphysematous gastritis with extensive portal venous gas and endoscopic mucosal necrosis: gastric preservation despite an alarming presentation.

Journal of surgical case reports·2026

Radiographic Findings Concerning for Gangrenous Cholecystitis in an Asymptomatic Elderly Patient: A Case for Conservative Management.

Cureus·2026

Possible Solution to the Gallium Anomaly Moving beyond the Leptonic Wave-Function Factorization.

Physical review letters·2026

Uranium Isotopes: From Geosciences to Biomedical Sciences.

Current environmental health reports·2026

Chiral discrimination of amino acids in meteorite and desert soil extracts via single-molecule nanogap conductance.

Nature communications·2026

Related Experiment Videos

Persistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity

Related Concept Videos

FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Requirement of voltage-dependent anion channel 2 for pro-apoptotic activity of Bax.

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Characterization of de novo microdeletions involving 17q11.2q12 identified through chromosomal comparative genomic hybridization.

A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

Dichloroacetate Improves Animal Survival, Growth, Neuromuscular Activity, Mitochondrial Stress and Physiology, and Elevated Lactate in C. elegans pdha-1 and dld-1 RNAi Models of Pyruvate Dehydrogenase Complex Deficiency (PDCD).

Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method.

Congenital Disorders of Glycosylation (CDG): State of the Art in 2026.

Prenatal diagnosis of severe glutaric acidemia type II due to a novel homozygous ETFDH frameshift variant: Case report and literature review.

Emphysematous gastritis with extensive portal venous gas and endoscopic mucosal necrosis: gastric preservation despite an alarming presentation.

Radiographic Findings Concerning for Gangrenous Cholecystitis in an Asymptomatic Elderly Patient: A Case for Conservative Management.

Possible Solution to the Gallium Anomaly Moving beyond the Leptonic Wave-Function Factorization.

Uranium Isotopes: From Geosciences to Biomedical Sciences.

Chiral discrimination of amino acids in meteorite and desert soil extracts via single-molecule nanogap conductance.

Related Experiment Videos

Persistent glycolic aciduria in a healthy child with normal alanine-glyoxylate aminotransferase activity

Related Concept Videos

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