5-Oxoprolinuria: A cause of neonatal metabolic acidosis [6]

Acta Paediatrica, International Journal of Paediatrics

Volumn 90, Issue 7, 2001, Pages 827-828

  Mitanchez, D ^a   Rabier, D ^a   Mokhtari, M ^a   Durrmeyer, X ^a   Menget, A ^a   Larsson, A ^a   Saudubray, J M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PYROGLUTAMIC ACID;

CASE REPORT; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; HUMAN; LETTER; MALE; METABOLIC ACIDOSIS; METABOLIC DISORDER; METABOLISM; NEWBORN; PATHOGENESIS; PRIORITY JOURNAL; URINARY EXCRETION;

ACIDOSIS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; MALE; PYRROLIDONECARBOXYLIC ACID; SEVERITY OF ILLNESS INDEX;

EID: 0034907229     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (4)

1. Clinical phenotypes: Diagnosis/algorythms
2. Glutathione synthetase deficiency and other disorders of the g-glutamyl cycle
3. 5-Oxoprolinuria (glutathione synthetase deficiency): A case with neonatal presentation and rapid fatal outcome
4. Prenatal diagnosis of glutathione synthase deficiency