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Academic Journal

Prenatal counseling in heterozygotes for ornithine transcarbamylase deficiency.

  • Authors : Fries MH; Department of Medical Genetics, Keesler Medical Center, Keesler Air Force Base, Mississippi.; Kuller JA

Subjects: Genetic Counseling* ; Ornithine Carbamoyltransferase Deficiency Disease* ; Prenatal Diagnosis*

  • Source: Clinical pediatrics [Clin Pediatr (Phila)] 1994 Sep; Vol. 33 (9), pp. 525-9.Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print Cited Medium: Print ISSN: 0009-9228

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Academic Journal

Propionic acidemia presenting as pyloric stenosis.

  • Authors : Katzman PJ; Department of Pediatrics, University of Rochester Medical Center, NY 14642, USA.; Arnold GL

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*diagnosis ; Propionates/Propionates/Propionates/*blood ; Pyloric Stenosis/Pyloric Stenosis/Pyloric Stenosis/*etiology

  • Source: Clinical pediatrics [Clin Pediatr (Phila)] 1995 Nov; Vol. 34 (11), pp. 613-5.Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print Cited Medium: Print ISSN: 0009-9228

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Report

Propionic acidemia revisited: a workshop report.

  • Authors : Sass JO; Stoffwechsellabor, Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Mathildenstr. 1, D-79196 Freiburg, Germany.; Hofmann M

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/*therapy ; Propionates/Propionates/Propionates/*blood

  • Source: Clinical pediatrics [Clin Pediatr (Phila)] 2004 Nov-Dec; Vol. 43 (9), pp. 837-43.Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print Cited Medium: Print ISSN: 0009-9228

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Academic Journal

Effect of long-term administration of sodium benzoate to a patient with partial ornithine carbamoyl transferase deficiency.

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

  • Source: Clinical pediatrics [Clin Pediatr (Phila)] 1983 Mar; Vol. 22 (3), pp. 206-8.Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print Cited Medium: Print ISSN: 0009-9228

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Academic Journal

Glycine encephalopathy in a neonate. Treatment with intravenous strychnine and sodium benzoate.

Subjects: Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*therapy ; Benzoates/Benzoates/Benzoates/*therapeutic use ; Brain Diseases, Metabolic/Brain Diseases, Metabolic/Brain Diseases, Metabolic/*therapy

  • Source: Clinical pediatrics [Clin Pediatr (Phila)] 1982 Oct; Vol. 21 (10), pp. 636-7.Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print Cited Medium: Print ISSN: 0009-9228

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Academic Journal

Treatment of branched chain ketoaciduria (BCKA) during acute illness: approaches to the correction of the acidosis.

Subjects: Diet Therapy*; Acidosis/Acidosis/Acidosis/*therapy ; Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/Amino Acid Metabolism, Inborn Errors/*therapy

  • Source: Clinical pediatrics [Clin Pediatr (Phila)] 1972 Jun; Vol. 11 (6), pp. 360-3.Publisher: Sage Publications Country of Publication: United States NLM ID: 0372606 Publication Model: Print Cited Medium: Print ISSN: 0009-9228

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  • 1-10 of  33 results for ""Amino Acid Metabolism, Inborn Errors""