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Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation

โœ Scribed by Ola H. Skjeldal; Oddvar Stokke; Sigvald Refsum; Jon Norseth; Henri Petit


Book ID
118930421
Publisher
Elsevier Science
Year
1987
Tongue
English
Weight
600 KB
Volume
77
Category
Article
ISSN
0022-510X

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Clinical and biochemical heterogeneity i
โœ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 395 KB ๐Ÿ‘ 2 views

A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo