Results 81 to 90 of about 73,449 (206)

A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing

JCI Insight, 2020
Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities.
Erik A. Koppes, Bethany K. Redel, Marie A. Johnson, Kristen J. Skvorak, Lina Ghaloul-Gonzalez, Megan E. Yates, Dale W. Lewis, Susanne M. Gollin, Yijen L. Wu, Shawn E. Christ, Martine Yerle, Angela Leshinski, Lee D. Spate, Joshua A. Benne, Stephanie L. Murphy, Melissa S. Samuel, Eric M. Walters, Sarah A. Hansen, Kevin D. Wells, Uta Lichter-Konecki, Robert A. Wagner, Joseph T. Newsome, Steven F. Dobrowolski, Jerry Vockley, Randall S. Prather, Robert D. Nicholls   +25 more
doaj   +1 more source

Comprehensive analysis of 1103 infants referred to a single center due to positive newborn screening test for phenylketonuria

The Turkish Journal of Pediatrics
Objective. Phenylketonuria (PKU) is a prevalent inherited metabolic disorder, resulting from biallelic pathogenic variants in the PAH gene. This study aimed to assess the clinical characteristics of 1103 infants referred to a single center due to ...
Ayça Burcu Kahraman, Kısmet Çıkı, Begüm Poşul, Mustafa Güvercin, Yılmaz Yıldız, Ali Dursun, Serap Sivri, Turgay Coşkun, Ayşegül Tokatlı   +8 more
doaj   +1 more source

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability [PDF]

, 2017
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA).
Benoist, Jean-François, Berutti, Riccardo, Schiff, M., Malicdan, M.C.V., Blau, N., Pode-Shakked, Ben, Engels, Hartmut, Malicdan, May Christine V, Heimer, Gali, Schwartz, Gerard, Marek-Yagel, Dina, Hoffmann, Georg F, Heimer, G., Vilboux, Thierry, Thöny, Beat, Trefz, Friedrich K., Trefz, F.K., Gahl, W.A., Landau, Y., Berutti, R., Gemperle-Britschgi, Corinne, Gemperle-Britschgi, C., Haack, T.B., Harper, J Wade, Martinez, A., Hoffmann, Georg F., Hoffmann, G.F., Guarani, Virginia, Imbard, Apolline, Meili, David, Anikster, Y., Huttlin, Edward L, Huttlin, E.L., Strom, T.M., Dorboz, Imen, Paulo, J.A., Mullikin, J.C., Prokisch, H., Mullikin, James C., Opladen, T., Meissner, T., Schiff, Manuel, Haack, Tobias B., Prokisch, Holger, Paulo, Joao A., Pode-Shakked, B., Guarani, V., Harper, J.W., Meissner, Thomas, Mullikin, James C, Meili, D., Marek-Yagel, D., Trefz, Friedrich K, Meitinger, Thomas, Harper, J. Wade, Mayatepek, E., Thöny, B., Strom, Tim M., Imbard, A., Paulo, Joao A, Vilboux, T., Shen, Nan, Gahl, William A, Huttlin, Edward L., Strom, Tim M, Landau, Yuval, Engels, H., Cremer, Kirsten, Cremer, K., Malicdan, May Christine V., Opladen, Thomas, Keller, Irene, Benoist, J.F., Meitinger, T., Bruggmann, Rémy, Anikster, Yair, Martinez, Aurora, Gahl, William A., Mayatepek, Ertan, Dorboz, I., Ziv-Strasser, L., Schwartz, G., Shen, N., Ben-Zeev, B., Haack, Tobias B, Keller, I., Ziv-Strasser, Limor, Blau, Nenad, Thöny, Beat; https://orcid.org/, Ben-Zeev, Bruria, Bruggmann, R.   +90 more
core   +1 more source

DNAJC12 Deficiency, an Emerging Condition Picked Up by Newborn Screening: A Case Illustration and a Novel Variant Identified

International Journal of Neonatal Screening
DNAJC12 deficiency is a recently described inherited metabolic disorder resulting in hyperphenylalaninemia and neurotransmitter deficiency. The effect of treatment on the prevention of neurological manifestations in this newly reported and heterogenous ...
Tsz Sum Wong, Sheila Suet Na Wong, Anne Mei Kwun Kwok, Helen Wu, Hiu Fung Law, Shirley Lam, Matthew Chun Wing Yeung, Toby Chun Hei Chan, Gordon Leung, Chloe Miu Mak, Kiran Moti Belaramani, Cheuk Wing Fung   +11 more
doaj   +1 more source

Socialization of a patient with late-diagnosed classical phenylketonuria. Case report

Consilium Medicum
Classical phenylketonuria (PKU) is a group of autosomal recessive disorders characterized by hyperphenylalaninemia. Phenylketonuria is hyperphenylalaninemia caused by a deficiency of phenylalanine hydroxylase, leading to the accumulation of phenylalanine
Elena V. Proskurina, Olga P. Sidorova
doaj   +1 more source

Experience With Hyperphenylalaninemia in a Developing Country: Unusual Clinical Manifestations and a Novel Gene Mutation

, 2010
We report our experience in a cohort of patients with hyperphenylalaninemia in a tertiary care referral center in Lebanon. Forty-one sequential patients were studied: 34 classical phenylketonuria (PKU), 3 hyperphenylalaninemia (non-PKU), and 4 biopterin
Mohamad A. Mikati, Lisbeth B. Moller, Pascale E. Karam, Rose T. Daher   +3 more
core   +1 more source

Maternal hyperphenylalaninemia syndrome: neuropsychological evaluation of four subjects during childhood and adolescence.

, 2006
Maternal hyperphenylalanemia during pregnancy may induce a severe embryopathy characterized by microcephaly, mental retardation, facial dysmorphy and congenital heart defects. Four subjects, two pairs of sibs, with maternal hyperphenylalaninemia syndrome
PICCIONE, Maria, CIACCIO, Marcello, GIUFFRE, Mario, CORSELLO, Giovanni, ROCCELLA, Michele, CICERO L, PUSATERI F   +6 more
core  

Newborn screening for hyperphenylalaninemia: a cohort study [PDF]

, 2012
A Fenilcetonúria Clássica é causada pela deficiência da enzima hepática fenilalaninahidroxilase. Se não diagnosticada e tratada precocemente, causa retardo mental.
Giugliani, Roberto, Jardim, Laura Bannach, Horta, Bernardo Lessa, Karam, Simone de Menezes   +3 more
core   +1 more source

Dietary treatment of destructive behavior associated with hyperphenylalaninemia

, 1998
Behavior disorders frequently are associated with mental retardation. The most common interventions involve psychotropics, behavior modification, or both.
Baumeister, Alfred A., Baumeister, Alan A.   +1 more
core  

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia.

, 2001
There is international consensus that patients with phenylalanine (Phe) levels 600 microM do. Clinical outcome of patients showing Phe levels between 360 and 600 microM in serum on a free nutrition has so far only been assessed in a small number of cases.
Josef Weglage, Zschocke, J, Georg Hoffmann, Feldmann, R., Pietsch, Michael, Flemming Güttler, Weglage, J, Harald Möller, Guldberg, Per, Güttler, F, Udo Wendel, Hoffmann, G, Zschocke, J., Hans-Georg Koch, Möller, Harald E., Ullrich, K., Muntau-Heger, A, Guldberg, P, Johannes Zschocke, Weglage, Josef, Zschocke, Johannes, Per Guldberg, Harms, Erik, Hoffmann, Georg, Hoffmann, G., Michael Pietsch, Muntau-Heger, A., Erik Harms, Feldmann, R, Koch, Hans-Georg, Möller, H, Weglage, J., Güttler, Flemming, Anja Muntau-Heger, Ullrich, Kurt, Wendel, U., Jonas Denecke, Guldberg, P., Pietsch, M, Denecke, J., Koch, H., Denecke, J, Kurt Ullrich, Pietsch, M., Ullrich, K, Denecke, Jonas, Koch, HG, Reinhold Feldmann, Güttler, F., Harms, E, Harms, E., Wendel, U, Wendel, Udo, Muntau-Heger, Anja, Feldmann, Reinhold, Möller, H. ; https://orcid.org/   +55 more
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