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Richner–Hanhart Syndrome Detected by Expanded Newborn Screening

✍ Scribed by Thomas Meissner; Regina Christine Betz; Sandra M. Pasternack; Sibylle Eigelshoven; Thomas Ruzicka; Roland Kruse; Gitta Laitenberger; Ertan Mayatepek

Book ID
109090605
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
93 KB
Volume
25
Category
Article
ISSN
0736-8046

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✍ El-Badramany, Magda H. ;Fawzy, Abdel Rahman ;Farag, Talaat I. 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 320 KB

Hereditary tyrosinemia is rare. The frequency in most populations is less than 1 in 250,000 for both the hepatorenal and the rarest oculocutaneous type [Scott and Cederbaum, 19901. The first clear descriptions of the so-called Richner-Hanhart syndrome (RHS) are by Spanlang [1927] and Fuhs [1928]. Th