Genetic and Physical Mapping of the Locus for Autosomal Dominant Renal Fanconi Syndrome, on Chromosome 15q15.3

Por Lichter-Konecki, U., Broman, K. W., Blau, E. B., Konecki, D. S.
Publicado em 2001

Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene.

Por Goltsov, A A, Eisensmith, R C, Konecki, D S, Lichter-Konecki, U, Woo, S L
Publicado em 1992

Menkes Disease in Affected Females: The Clinical Disease Spectrum

Por Smpokou, P, Samanta, M, Berry, GT, Hecht, L, Engle, EC, Lichter-Konecki, U
Publicado no Am J Med Genet A (2014)

Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

Por Rivera, I, Leandro, P, Lichter-Konecki, U, Tavares de Almeida, I, Lechner, M C
Publicado em 1998

Population Pharmacokinetic Modeling and Dosing Simulations of Nitrogen-Scavenging Compounds: Disposition of Glycerol Phenylbutyrate and Sodium Phenylbutyrate in Adult and Pediatric...

Por Monteleone, Jon P. R., Mokhtarani, M., Diaz, G. A., Rhead, W., Lichter-Konecki, U., Berry, S. A., LeMons, C., Dickinson, K., Coakley, D., Lee, B., Scharschmidt, B. F.
Publicado em 2013

Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

Por Mokhtarani, M., Diaz, G.A., Lichter-Konecki, U., Berry, S.A., Bartley, J., McCandless, S.E., Smith, W., Harding, C., Le Mons, C., Coakley, D.F., Lee, B., Scharschmidt, B.F.
Publicado no Mol Genet Metab Rep (2015)

Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate

Por Smith, W, Diaz, GA, Lichter-Konecki, U, Berry, SA, Harding, CO, McCandless, SE, LeMons, C, Mauney, J, Dickinson, K, Coakley, DF, Moors, TL, Mokhtarani, M, Mokhtarani, M, Scharschmidt, BF, Lee, B
Publicado em 2013

GLUTAMINE AND HYPERAMMONEMIC CRISES IN PATIENTS WITH UREA CYCLE DISORDERS

Por Lee, B., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S.A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S.C., Berquist, W., Gallagher, R.C., Harding, C.O., McCandless, S.E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.
Publicado no Mol Genet Metab (2015)

Urinary Phenylacetylglutamine as Dosing Biomarker for Patients with Urea Cycle Disorders

Por Mokhtarani, M, Diaz, GA, Rhead, W, Lichter-Konecki, U, Bartley, J, Feigenbaum, A, Longo, N, Berquist, W, Berry, SA, Gallagher, R, Bartholomew, D, Harding, CO, Korson, MS, McCandless, SE, Smith, W, Vockley, J, Bart, S, Kronn, D, Zori, R, Cederbaum, S, Dorrani, N, Merritt, JL, Sreenath-Nagamani, Sandesh, Summar, M, LeMons, C, Dickinson, K, Coakley, DF, Moors, TL, Lee, B, Scharschmidt, BF
Publicado em 2012

ELEVATED PHENYLACETIC ACID LEVELS DO NOT CORRELATE WITH ADVERSE EVENTS IN PATIENTS WITH UREA CYCLE DISORDERS OR HEPATIC ENCEPHALOPATHY AND CAN BE PREDICTED BASED ON THE PLASMA PAA...

Por Mokhtarani, M., Diaz, G.A., Rhead, W., Berry, S.A., Lichter-Konecki, U., Feigenbaum, A., Schulze, A., Longo, N., Bartley, J., Berquist, W., Gallagher, R., Smith, W., McCandless, S.E., Harding, C., Rockey, D.C., Vierling, J.M., Mantry, P., Ghabril, M., Brown, R.S., Dickinson, K., Moors, T., Norris, C., Coakley, D., Milikien, D.A., Nagamani, SC, LeMons, C., Lee, B., Scharschmidt, B.F.
Publicado em 2013

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

Por Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, U., Feigenbaum, Annette, Berry, Susan A., Le Mons, C., Bartley, James A, Longo, Nicola, Nagamani, Sandesh C., Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J. Lawrence, Schulze, A., Vockley, Gerard., Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, D.A., Marino, M., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.
Publicado no Genet Med (2014)

Multiple origins for phenylketonuria in Europe

Por Eisensmith, R. C., Okano, Y., Dasovich, M., Wang, T., Güttler, F., Lou, H., Guldberg, P., Lichter-Konecki, U., Konecki, D. S., Svensson, E., Hagenfeldt, L., Rey, F., Munnich, A., Lyonnet, S., Cockburn, F., Connor, J. M., Pembrey, M. E., Smith, I., Gitzelmann, R., Steinmann, B., Apold, J., Eiken, H. G., Giovannini, M., Riva, E., Longhi, R., Romano, C., Cerone, R., Naughten, E. R., Mullins, C., Cahalane, S., Özalp, I., Fekete, G., Schuler, D., Berencsi, G. Y., Nász, I., Brdicka, R., Kamaryt, J., Pijackova, A., Cabalska, B., Boszkowa, K., Schwartz, E., Kalinin, V. N., Jin, L., Chakraborty, R., Woo, S. L. C.
Publicado em 1992