hyperostosis < hyperphenylalaninemia < hyperpigmentation

Facettes :

List of bibliographic references indexed by hyperphenylalaninemia

Number of relevant bibliographic references: 2.

Ident.	Authors (with country if any)	Title
001752 (2011)	Thomas Opladen [Allemagne] ; Georg Hoffmann [Allemagne] ; Friederike Hörster [Allemagne] ; Anne-B Rbel Hinz [Allemagne] ; Katharina Neidhardt [Allemagne] ; Christine Klein [Allemagne] ; Nicole Wolf [Pays-Bas]	Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia
003E15 (2004)	Akio Kikuchi [Japon] ; Atsushi Takeda [Japon] ; Kazuo Fujihara [Japon] ; Teiko Kimpara [Japon] ; Yusei Shiga [Japon] ; Hiroaki Tanji [Japon] ; Makiko Nagai [Japon] ; Hiroshi Ichinose [Japon] ; Fumi Urano [Japon] ; Nobuyuki Okamura [Japon] ; Hiroyuki Arai [Japon] ; Yasuto Itoyama [Japon]	Arg(184)his mutant GTP cyclohydrolase I, causing recessive hyperphenylalaninemia, is responsible for dopa‐responsive dystonia with parkinsonism: A case report

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