R
Richard Koch
Researcher at University of Southern California
Publications - 112
Citations - 3534
Richard Koch is an academic researcher from University of Southern California. The author has contributed to research in topics: Pregnancy & Phenylalanine hydroxylase. The author has an hindex of 35, co-authored 112 publications receiving 3432 citations. Previous affiliations of Richard Koch include BioMarin Pharmaceutical & Children's Hospital Los Angeles.
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Journal ArticleDOI
Hypergonadotropic Hypogonadism in Female Patients with Galactosemia
Francine R. Kaufman,Maurice D. Kogut,George N. Donnell,Uwe Goebelsmann,Charles M. March,Richard Koch +5 more
TL;DR: Gonadal function was normal in the males, but 12 females had signs of hypergonadotropin-like behaviour, suggesting that gonadal function in females with galactosemia due to transferase deficiency is impaired.
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Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations.
Heidi Erlandsen,Angel L. Pey,Angel L. Pey,Alejandra Gámez,Belén Pérez,Lourdes R. Desviat,Cristina Aguado,Richard Koch,Richard Koch,Sankar Surendran,Stephen K. Tyring,Reuben Matalon,Charles R. Scriver,Charles R. Scriver,Magdalena Ugarte,Aurora Martinez,Raymond C. Stevens,Raymond C. Stevens +17 more
TL;DR: The biochemical and kinetic characterization of the 15 mutants studied points toward a multifactorial basis for the BH4 responsiveness; the mutants show residual activity (>30% of WT) and display various kinetic defects, including increased Km (BH4) and reduced cooperativity of substrate binding, but no decoupling of cofactor (Bh4) oxidation.
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Suboptimal outcomes in patients with PKU treated early with diet alone: revisiting the evidence.
TL;DR: There is a growing body of evidence that suggests that neurocognitive, psychosocial, quality of life, growth, nutrition, bone pathology and maternal PKU outcomes are suboptimal.
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Intellectual development in 12-year-old children treated for phenylketonuria.
Colleen Azen,Richard Koch,Eva Gross Friedman,Stanley Berlow,James G. Coldwell,Wilma Krause,Reuben Matalon,Edward R.B. McCabe,Margaret E. O'Flynn,Raymond M. Peterson,Bobbye Rouse,C. Ronald Scott,Bernice Sigman,David Valle,Robert Warner +14 more
TL;DR: Data support a recommendation that dietary restriction of phenylalanine should be maintained through adolescence, and show no deficits in test scores, except for arithmetic, which declined between ages 6 and 12 years in 90% of the children in this study.
Journal ArticleDOI
The Maternal Phenylketonuria International Study: 1984-2002.
Richard Koch,William B. Hanley,Harvey L. Levy,Kim Matalon,Reuben Matalon,Bobbye Rouse,Frederick Trefz,Flemming Güttler,Colleen Azen,Lawrence D. Platt,Susan E. Waisbren,Keith F. Widaman,Jiaping Ning,Eva Gross Friedman,Felix de la Cruz +14 more
TL;DR: The achievement of pre- and periconceptional dietary control with a Phe-restricted diet significantly decreased morbidity in the offspring of women with HPA.