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Academic Journal

Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan.

  • Authors : Bilal M; Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan.; Jafri L

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/deficiency Glutaric Acidemia I

  • Source: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP [J Coll Physicians Surg Pak] 2024 Jun; Vol. 34 (6), pp. 646-649.Publisher: College of Physicians and Surgeons Pakistan Country of Publication: Pakistan NLM ID: 9606447 Publication Model: Print Cited Medium: Internet

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Academic Journal

Dodecyl creatine ester therapy: from promise to reality.

  • Authors : Mabondzo A; Paris Saclay University, CEA, Medicines and Healthcare Technologies Department (MTS), SPI, Neurovascular Unit Research and Therapeutic Innovation Laboratory, 91191, Gif-sur-Yvette cedex, France. .; van de Kamp J

Subjects: Autism Spectrum Disorder* ; Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/drug therapy ; Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/genetics Creatine deficiency, X-linked

  • Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2024 Apr 17; Vol. 81 (1), pp. 186. Date of Electronic Publication: 2024 Apr 17.Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071

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Academic Journal

Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias.

Subjects: Neonatal Screening*/Neonatal Screening*/Neonatal Screening*/methods ; Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/deficiency ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis Glutaric Acidemia I

  • Source: Anales de pediatria [An Pediatr (Engl Ed)] 2024 May; Vol. 100 (5), pp. 318-324. Date of Electronic Publication: 2024 May 06.Publisher: Elsevier Country of Publication: Spain NLM ID: 101765626 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2341-2879

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Academic Journal

Uraemic brainstem encephalopathy mimicking ocular myasthenia: a case report.

  • Authors : Ruwanpathirana P; Professorial Unit in Medicine, National Hospital of Sri Lanka, Colombo, 01000, Sri Lanka. .; Chang T

Subjects: Myasthenia Gravis*/Myasthenia Gravis*/Myasthenia Gravis*/complications ; Myasthenia Gravis*/Myasthenia Gravis*/Myasthenia Gravis*/diagnosis ; Brain Diseases, Metabolic*

  • Source: BMC neurology [BMC Neurol] 2024 Apr 12; Vol. 24 (1), pp. 121. Date of Electronic Publication: 2024 Apr 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Academic Journal

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.

  • Authors : Yang J; State Key Laboratory of Molecular Biology, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, University of Chinese Academy of Sciences, Shanghai, China.; Chen X

Subjects: Alcohol Oxidoreductases*/Alcohol Oxidoreductases*/Alcohol Oxidoreductases*/chemistry ; Alcohol Oxidoreductases*/Alcohol Oxidoreductases*/Alcohol Oxidoreductases*/metabolism ; Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/Brain Diseases, Metabolic, Inborn*/enzymology 2-Hydroxyglutaricaciduria

  • Source: The Journal of biological chemistry [J Biol Chem] 2024 Jan; Vol. 300 (1), pp. 105491. Date of Electronic Publication: 2023 Nov 22.Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication

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Report

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

  • Authors : Leal-Ortega R; Department of Neurology, Hospital Regional de Alta Especialidad de la Peninsula de Yucatán. Mérida, Mexico.; Parra-Medina LE

Subjects: Carnitine* ; Tremor* ; Brain Diseases, Metabolic, Inborn*2-Hydroxyglutaricaciduria

  • Source: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2024 Mar 07; Vol. 14, pp. 12. Date of Electronic Publication: 2024 Mar 07 (Print Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-8288

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Academic Journal

Neuroimaging features of psilocybin-induced toxic-metabolic encephalopathy in an adolescent.

  • Authors : Ho C; School of Medicine, University of Nevada Reno School of Medicine, Reno, Nevada, USA.; Crawford JR

Subjects: Psilocybin* ; Brain Diseases, Metabolic*; Humans

  • Source: BMJ case reports [BMJ Case Rep] 2024 Mar 05; Vol. 17 (3). Date of Electronic Publication: 2024 Mar 05.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101526291 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-790X

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Academic Journal

Compilation of Genotype and Phenotype Data in GCDH -LOVD for Variant Classification and Further Application.

  • Authors : Tibelius A; Institute of Human Genetics, Heidelberg University, 69120 Heidelberg, Germany.; Evers C

Subjects: Brain Diseases, Metabolic*/Brain Diseases, Metabolic*/Brain Diseases, Metabolic*/diagnosis; Humans ; Glutaryl-CoA Dehydrogenase Glutaric Acidemia I

  • Source: Genes [Genes (Basel)] 2023 Dec 14; Vol. 14 (12). Date of Electronic Publication: 2023 Dec 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425

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Academic Journal

Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.

  • Authors : Barroso M; University Children's Research, , University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Gertzen M

Subjects: Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/chemistry ; Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/Glutaryl-CoA Dehydrogenase*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/enzymology Glutaric Acidemia I

  • Source: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 24; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 24.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.

  • Authors : Zhou J; Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, 350001, Fujian Province, China.; Li G

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/epidemiology ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics Glutaric Acidemia I

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 26; Vol. 18 (1), pp. 215. Date of Electronic Publication: 2023 Jul 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

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  • 1-10 of  1,595 results for ""Brain Diseases, Metabolic""