Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.

Häberle, Johannes; Shahbeck, Noora; Ibrahim, Khalid; Schmitt, Bernhard; Scheer, Ianina; O'Gorman, Ruth; Chaudhry, Farrukh A; Ben-Omran, Tawfeg

Häberle, Johannes; Shahbeck, Noora; Ibrahim, Khalid; Schmitt, Bernhard; Scheer, Ianina; O'Gorman, Ruth; Chaudhry, Farrukh A; Ben-Omran, Tawfeg.

Affiliation

Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland. Johannes.Haeberle@kispi.uzh.ch

Orphanet J Rare Dis ; 7: 48, 2012 Jul 25.

Article in En | MEDLINE | ID: mdl-22830360

Subject(s)

Amino Acid Metabolism, Inborn Errors/therapy; Amino Acids/metabolism; Glutamate-Ammonia Ligase/deficiency; Glutamine/administration & dosage; Brain/pathology; Child; Humans; Magnetic Resonance Imaging

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Full text: 1 Database: MEDLINE Main subject: Amino Acid Metabolism, Inborn Errors / Amino Acids / Glutamine / Glutamate-Ammonia Ligase Language: En Journal: Orphanet J Rare Dis Year: 2012 Type: Article Affiliation country: Switzerland

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