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Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis
Author(s) -
Shih Vivian E.,
Laframboise Rachel,
Mandell Roseann,
Pichette Jeanne
Publication year - 1992
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970120905
Subject(s) - prenatal diagnosis , medicine , pregnancy , pediatrics , prenatal care , obstetrics , fetus , genetics , biology
We describe here the first case of neonatal death due to the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and the first prenatal diagnosis of this disorder in a subsequent pregnancy in this family.