MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

No abstract is available for this paper.

• Publication year

  1998

• Venue

  AJNR. American journal of neuroradiology

• Publication date

  1998-02-01

• Fields of study

  Biology, Medicine, Chemistry

• Identifiers
  PMID 9504498PMCID PMC8338179
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase

  2004cited by this paper
• In vivo 1H MRS choline: correlation with in vitro chemistry/histology.

  1996cited by this paper
• CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.

  1994cited by this paper
• Neonatal hypoglycemia: CT and MR findings.

  1994cited by this paper
• Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

  1994cited by this paper
• Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report

  1993cited by this paper
• Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo

  1993cited by this paper
• 1H and 31P magnetic resonance spectroscopy of the brain in degenerative cerebral disorders

  1992cited by this paper
• 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia

  1991cited by this paper
• Magnetic Resonance of Myelin, Myelination, and Myelin Disorders

  1990cited by this paper
• The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria

  1990cited by this paper
• 3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: Report of five new patients

  1988cited by this paper
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients

  1988cited by this paper
• Atypical presentation and neuropathological studies in 3‐hydroxy‐3‐methylglutaryl–CoA lyase deficiency

  1986cited by this paper
• 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency in an infant with macrocephaly and mild metabolic acidosis

  1982cited by this paper
• Effects of neonatal hypoglycaemia on the nervous system: a pathological study.

  1967cited by this paper
• CEREBRAL LESIONS IN HYPOGLYCEMIA: III EXPERIMENTAL INVESTIGATIONS

  1940cited by this paper

• Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literature

  2025cites this paper
• Disruption of Mitochondrial Quality Control in Inherited Metabolic Disorders

  2024cites this paper
• Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I

  2024cites this paper
• Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom

  2024cites this paper
• Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases

  2023cites this paper
• The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders

  2020cites this paper
• Disruption of mitochondrial functions and oxidative stress contribute to neurologic dysfunction in organic acidurias.

  2020cites this paper
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces

  2019cites this paper
• 3-Hydroxy-3-Methylglutaric Acid Impairs Redox and Energy Homeostasis, Mitochondrial Dynamics, and Endoplasmic Reticulum–Mitochondria Crosstalk in Rat Brain

  2019cites this paper
• Bezafibrate In Vivo Administration Prevents 3-Methylglutaric Acid-Induced Impairment of Redox Status, Mitochondrial Biogenesis, and Neural Injury in Brain of Developing Rats

  2019cites this paper
• The ketogenic diet in disease and development

  2018cites this paper
• Neuroimaging Findings of Organic Acidemias and Aminoacidopathies.

  2018cites this paper
• Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

  2017cites this paper
• 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

  2017cites this paper
• β-Hydroxybutyrate in the Brain: One Molecule, Multiple Mechanisms

  2016cites this paper
• 3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report.

  2016cites this paper
• Induction of a Proinflammatory Response in Cortical Astrocytes by the Major Metabolites Accumulating in HMG-CoA Lyase Deficiency: the Role of ERK Signaling Pathway in Cytokine Release

  2016cites this paper
• 3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation

  2015cites this paper
• Evidence that 3-hydroxy-3-methylglutaric and 3-methylglutaric acids induce DNA damage in rat striatum

  2015cites this paper
• NMDA Receptors and Oxidative Stress Induced by the Major Metabolites Accumulating in HMG Lyase Deficiency Mediate Hypophosphorylation of Cytoskeletal Proteins in Brain From Adolescent Rats: Potential Mechanisms Contributing to the Neuropathology of This Disease

  2015cites this paper
• Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

  2015cites this paper
• Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

  2014cites this paper
• In vivo experimental evidence that the major metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency induce oxidative stress in striatum of developing rats: a potential pathophysiological mechanism of striatal damage in this disorder.

  2013cites this paper
• Redox homeostasis is compromised in vivo by the metabolites accumulating in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in rat cerebral cortex and liver

  2013cites this paper
• Magnetic resonance methods in fetal neurology.

  2012cites this paper
• Advanced fetal MRI: Diffusion tensor imaging, spectroscopy, dynamic MRI, resting-state functional MRI

  2012cites this paper
• Inborn errors of ketogenesis and ketone body utilization

  2012cites this paper
• Disorders of Ketogenesis and Ketolysis

  2012cites this paper
• MR imaging workup of inborn errors of metabolism of early postnatal onset.

  2011cites this paper
• Efeitos in vitro dos ácidos 3-hidroxi-3-metilglutárico, 3-metilglutárico, 3-metilglutacônico e 3-hidroxiisovalérico sobre parâmetros de estresse oxidativo em cérebro e fígado de ratos jovens

  2009cites this paper
• Clinical MR Spectroscopy: Techniques and Applications

  2009cites this paper
• Magnetic resonance spectroscopy of the fetal brain

  2009cites this paper
• Striatum is more vulnerable to oxidative damage induced by the metabolites accumulating in 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency as compared to liver

  2009influential citation
• L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.

  2009cites this paper
• Neonatal hypoglycemia

  2009cites this paper
• 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult

  2009influential citation
• EFEITOS IN VITRO E EX VIVO DOS PRINCIPAIS COMPOSTOS ACUMULADOS NAS ACIDEMIAS ISOVALÉRICA, 3-METILGLUTACÔNICA E 3-HIDROXI-3-METILGLUTÁRICA SOBRE VÁRIOS PARÂMETROS DO METABOLISMO ENERGÉTICO EM CÓRTEX CEREBRAL DE RATOS JOVENS

  2009cites this paper
• 3-Hidroksi-3-Metil Glutaril Koenzim-A Liyaz Eksikliği

  2008cites this paper
• Evidence that 3‐hydroxy‐3‐methylglutaric acid promotes lipid and protein oxidative damage and reduces the nonenzymatic antioxidant defenses in rat cerebral cortex

  2008cites this paper
• Metabolische Erkrankungen des kindlichen Gehirns

  2007cites this paper
• 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.

  2007cites this paper
• Molecular genetics of HMG-CoA lyase deficiency.

  2007cites this paper
• ETUDE DE L'AMPLIFICATION DE LA NEURODEGENERESCENCE EXCITOTOXIQUE PAR UNE DYSFONCTION MITOCHONDRIALE : IMPLICATIONS POUR LA MALADIE DE HUNTINGTON

  2006cites this paper
• Corticospinal tract involvement in a patient with 3-HMG coenzyme A lyase deficiency.

  2006cites this paper
• Advanced Magnetic Resonance Imaging in Leukodystrophies

  2005cites this paper
• Disorders of intermediary metabolism: Toxic leukoencephalopathies

  2005cites this paper
• Diffusion-weighted MR imaging in leukodystrophies

  2005cites this paper
• Cerebral ketone body metabolism

  2005cites this paper
• 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

  2001cites this paper
• Update on white matter genetic disorders.

  2001cites this paper
• Clinical Magnetic Resonance Spectroscopy

  2001cites this paper
• [3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency].

  2000cites this paper
• 3-Hydroxy-3-methylglutaracidurie (Fallbeschreibung eines weiblichen türkischen Geschwisterpaares mit 3-Hydroxy-3-methylglutaryl-Coenzym A Lyase Mangel)*

  2000cites this paper
• MRI and MRS in HMG-CoA lyase deficiency.

  1999influential citation