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Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation.

  • Authors : Liu YR; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Ji YF

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*psychology ; Homocystinuria/Homocystinuria/Homocystinuria/*complications Methylmalonic acidemia with homocystinuria

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2015 Apr; Vol. 86 (4), pp. 472-5. Date of Electronic Publication: 2014 Aug 04.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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Academic Journal

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

  • Authors : Thauvin-Robinet C; Centre de Génétique, Hôpital d'Enfants, 10 Bd maréchal de Lattre de Tassigny, 21034 Dijon Cedex, France. ; Roze E

Subjects: Chromosome Aberrations* ; DNA Mutational Analysis*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2008 Jun; Vol. 79 (6), pp. 725-8. Date of Electronic Publication: 2008 Feb 01.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Gyrate Atrophy/Gyrate Atrophy/Gyrate Atrophy/*etiology ; Muscular Diseases/Muscular Diseases/Muscular Diseases/*etiology

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2007 Jun; Vol. 78 (6), pp. 656-7. Date of Electronic Publication: 2006 Nov 06.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print-Electronic Cited

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Academic Journal

Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency.

  • Authors : Oechsner M; Department of Neurology, University Hospital Eppendorf, Hamburg, Germany.; Steen C

Subjects: Ornithine Carbamoyltransferase Deficiency Disease*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications ; Ammonia/Ammonia/Ammonia/*blood

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1998 May; Vol. 64 (5), pp. 680-2.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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Glutaric aciduria type 1 in adulthood.

Subjects: Oxidoreductases Acting on CH-CH Group Donors*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Dystonia/Dystonia/Dystonia/*genetics

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1996 Mar; Vol. 60 (3), pp. 352-3.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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Academic Journal

Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency.

Subjects: Ornithine Carbamoyltransferase Deficiency Disease* ; Tomography, X-Ray Computed*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1983 Jan; Vol. 46 (1), pp. 28-34.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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Academic Journal

Familial lysinuric protein intolerance presenting as coma in two adult siblings.

  • Authors : Shaw PJ; Department of Neurology, University of Newcastle upon Tyne, UK.; Dale G

Subjects: Family* ; Family Health*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1989 May; Vol. 52 (5), pp. 648-51.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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Academic Journal

Peripheral neuropathy as the presenting feature of tyrosinaemia type I and effectively treated with an inhibitor of 4-hydroxyphenylpyruvate dioxygenase.

  • Authors : Gibbs TC; Medical Professiorial Unit, Hospital for Sick Children, London.; Payan J

Subjects: 4-Hydroxyphenylpyruvate Dioxygenase/4-Hydroxyphenylpyruvate Dioxygenase/4-Hydroxyphenylpyruvate Dioxygenase/*antagonists & inhibitors ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*complications ; Cyclohexanones/Cyclohexanones/Cyclohexanones/*therapeutic use

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1993 Oct; Vol. 56 (10), pp. 1129-32.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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Editorial & Opinion

Biopterins in arginase, dihydropteridine reductase and phenylalanine hydroxylase deficiency.

Subjects: Phenylketonurias*/Phenylketonurias*/Phenylketonurias*/*enzymology; Hyperargininemia*; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*enzymology

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1987 Feb; Vol. 50 (2), pp. 242.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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Alcaptonuria with seizures.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*genetics ; Epilepsy/Epilepsy/Epilepsy/*genetics ; Tyrosine/Tyrosine/Tyrosine/*metabolism

  • Source: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 1983 Jan; Vol. 46 (1), pp. 98.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 2985191R Publication Model: Print Cited Medium:

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  • 1-10 of  70 results for ""Amino Acid Metabolism, Inborn Errors""