Lethal Fetal and Early Neonatal Presentation of Adenylosuccinate Lyase Deficiency: Observation of 6 Patients in 4 Families

Journal of Pediatrics

Volumn 150, Issue 1, 2007, Pages

  Mouchegh, Katharina ^a   Zikánová, Marie ^a   Hoffmann, Georg F ^a   Kretzschmar, Benno ^a   Kühn, Thomas ^a   Mildenberger, Eva ^a   Stoltenburg Didinger, Gisela ^a   Krijt, Jakub ^a   Dvořáková, Lenka ^a   Honzík, Tomáš ^a   Zeman, Jiri ^a   Kmoch, Stanislav ^a   Rossi, Rainer ^a  

^a VIVANTES KLINIKUM NEUKÖLLN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLOSUCCINATE LYASE;

ADENYLOSUCCINATE LYASE DEFICIENCY; ARTICLE; ARTIFICIAL VENTILATION; CLINICAL ARTICLE; CLINICAL FEATURE; DEATH; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME STABILITY; FEMALE; FETUS; FETUS HEART RATE; GENE MUTATION; HEART RATE VARIABILITY; HETEROZYGOSITY; HUMAN; HYPOKINESIA; INTRACTABLE EPILEPSY; INTRAUTERINE GROWTH RETARDATION; MALE; MICROCEPHALY; MUSCLE HYPOTONIA; NEWBORN; PERINATAL PERIOD; PRIORITY JOURNAL; PROTEIN EXPRESSION; RETROSPECTIVE STUDY;

EID: 33845641364     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2006.09.027     Document Type: Article

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