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Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation

✍ Scribed by Jaak Jaeken; Gert Matthijs; Jean-Marie Saudubray; Carlo Dionisi-Vici; Enrico Bertini; Pascale de Lonlay; Hugues Henri; Hubert Carchon; Els Schollen; Emile Van Schaftingen

Book ID: 117852423
Publisher: American Society of Human Genetics
Year: 1998
Tongue: English
Weight: 195 KB
Volume: 62
Category: Article
ISSN: 0002-9297
DOI: 10.1086/301873

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