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Literature DB >> 8273985

Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.

L J Wong¹, W J Craigen, W E O'Brien.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1994 PMID： 8273985 DOI： 10.7326/0003-4819-120-3-199402010-00007

Source DB: PubMed Journal: Ann Intern Med ISSN： 0003-4819 Impact factor: 25.391

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12 in total

1. Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency.

Authors: M R Mardach; K Roe; S D Cederbaum
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2. Pregnancy in a woman with maple syrup urine disease.

Authors: S Grünewald; F Hinrichs; U Wendel
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3. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

Authors: Johannes Häberle; Oleg A Shchelochkov; Jing Wang; Panagiotis Katsonis; Lynn Hall; Sara Reiss; Angela Eeds; Alecia Willis; Meeta Yadav; Samantha Summar; Olivier Lichtarge; Vicente Rubio; Lee-Jun Wong; Marshall Summar
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4. Pregnancy and argininosuccinic aciduria.

Authors: S Worthington; J Christodoulou; B Wilcken; B Peat
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

5. Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.

Authors: B E Wilson; W N Hobbs; J J Newmark; S J Farrow
Journal: West J Med Date: 1994-08

6. A series of pregnancies in women with inherited metabolic disease.

Authors: Janneke G Langendonk; Jonathan C P Roos; Lindsay Angus; Monique Williams; François P J Karstens; Johannes B C de Klerk; Charlé Maritz; Tawfeg Ben-Omran; Catherine Williamson; Robin H Lachmann; Elaine Murphy
Journal: J Inherit Metab Dis Date: 2011-09-15 Impact factor: 4.982

Postpartum coma and death due to carbamoyl-phosphate synthetase I deficiency.

1. Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency.

2. Pregnancy in a woman with maple syrup urine disease.

3. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.

4. Pregnancy and argininosuccinic aciduria.

5. Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.

6. A series of pregnancies in women with inherited metabolic disease.

Review 7. Inborn errors of metabolism and pregnancy.

Review 8. Psychiatric consultation to the postpartum mother.

9. Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers.

Review 10. Contrasting features of urea cycle disorders in human patients and knockout mouse models.