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Underwood PC, Adler GK

Gastroenterology 104(3):853861

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The mother did not agree to have a blood test herself and presented herself three years later, at the age of 29 years, to our prenatal unit at 7 weeks of gestational age

Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease