Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?
Authors: Waters, P.J. et al.
Journal: Molecular Genetics and Metabolism
Volume: 86
Issue: SUPPL.
Pages: 148-152
eISSN: 1096-7206
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2005.07.032
Abstract:A neonate presented with hyperphenylalaninemia (HPA), with a persistently elevated phenylalanine/tyrosine ratio. The HPA was responsive to tetrahydrobiopterin (BH4). His clinical course was dominated by liver failure, associated with perinatal hemochromatosis. He also developed renal tubulopathy. HPA has not previously been reported in association with any of these features. We investigated the etiology of his condition, and discuss the possibility that this represents a novel single-gene disorder. © 2005 Elsevier Inc. All rights reserved.
Source: Scopus
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
Authors: Waters, P.J. et al.
Journal: Mol Genet Metab
Volume: 86 Suppl 1
Pages: S148-S152
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2005.07.032
Abstract:A neonate presented with hyperphenylalaninemia (HPA), with a persistently elevated phenylalanine/tyrosine ratio. The HPA was responsive to tetrahydrobiopterin (BH4). His clinical course was dominated by liver failure, associated with perinatal hemochromatosis. He also developed renal tubulopathy. HPA has not previously been reported in association with any of these features. We investigated the etiology of his condition, and discuss the possibility that this represents a novel single-gene disorder.
Source: PubMed
Preferred by: Minesh Khashu
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: A unique patient or a novel metabolic disorder?
Authors: Waters, P.J. et al.
Journal: MOLECULAR GENETICS AND METABOLISM
Volume: 86
Pages: S148-S152
eISSN: 1096-7206
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2005.07.032
Source: Web of Science (Lite)
Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?
Authors: Waters, P.J. et al.
Journal: Molecular genetics and metabolism
Volume: 86 Suppl 1
Pages: S148-S152
eISSN: 1096-7206
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2005.07.032
Abstract:A neonate presented with hyperphenylalaninemia (HPA), with a persistently elevated phenylalanine/tyrosine ratio. The HPA was responsive to tetrahydrobiopterin (BH4). His clinical course was dominated by liver failure, associated with perinatal hemochromatosis. He also developed renal tubulopathy. HPA has not previously been reported in association with any of these features. We investigated the etiology of his condition, and discuss the possibility that this represents a novel single-gene disorder.
Source: Europe PubMed Central