Zobrazeno 1 - 10
of 98
pro vyhledávání: '"Uta Lichter-Konecki"'
Autor:
Kara Simpson, Nicholas Ah Mew, Ljubica Caldovic, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalkar, Uta Lichter-Konecki, McKenna Kyriss, Elaine Spector, Meredith Weaver, Manya Warrier, Diane Zastrow, Amanda Thomas-Wilson
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100884- (2024)
Externí odkaz:
https://doaj.org/article/cd6c80da050b43fc9abb2af511554055
Autor:
Georgianne Arnold, Shawn Christ, Uta Lichter-Konecki, Dorothy Grange, Janet Thomas, Gerard Berry, Nicola Longo, Desiree White, Cary Harding
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100895- (2024)
Externí odkaz:
https://doaj.org/article/3fff5d08d8454e4db203d09529181a73
Autor:
Jessica R. C. Priestley, Laura A. Adang, Sarah Drewes Williams, Uta Lichter-Konecki, Caitlin Menello, Nicole M. Engelhardt, James C. DiPerna, Brenda DiBoscio, Rebecca C. Ahrens-Nicklas, Andrew C. Edmondson, Francis Jeshira Reynoso Santos, Can Ficicioglu
Publikováno v:
International Journal of Neonatal Screening, Vol 8, Iss 2, p 24 (2022)
X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. It results from pathogenic variants in ABCD1, which encodes the peroxisomal very-long-chain fatty acid transporter, causing a spectrum of neurodegenerative phenotypes. The
Externí odkaz:
https://doaj.org/article/018239cea8904a618109a82df3f1a1e3
Autor:
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
Publikováno v:
JCI Insight, Vol 5, Iss 20 (2020)
Phenylalanine hydroxylase–deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleteri
Externí odkaz:
https://doaj.org/article/25a4c7bc5404441d96bc2b097f4c68db
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 6, Iss C, Pp 8-12 (2016)
Phenylketonuria (PKU) is a rare metabolic disorder characterized by impaired conversion of phenylalanine (Phe) to tyrosine. If left untreated, the resultant accumulation of excess blood Phe can cause physiological, neurological, and intellectual disa
Externí odkaz:
https://doaj.org/article/add87ff2107b42ac9845a051b5fae8cd
Autor:
Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high do
Externí odkaz:
https://doaj.org/article/8721ed92ba104616bb40317896b771f5
Autor:
Kara Simpson, Nicholas Ah. Mew, Ljubica Caldovic, William Craigen, Annette Feigenbaum, Raquel Fernandez, Emily Groopman, Andrea Gropman, Emily Kudalker, McKenna Kyriss, Uta Lichter-Konecki, Sandesh Nagamani, Elaine Spector, Amanda Thomas-Wilson, Manya Warrier, Meredith Weaver, Diane Zastrow
Publikováno v:
Molecular Genetics and Metabolism. 138:107488
Autor:
Shawn E. McCandless, Allison A. Bannick, Roberto T. Zori, Uta Lichter-Konecki, Nicola Longo, Michal Inbar-Feigenberg, Thomas Vescio, Nicholas Ah Mew, Teresa Kok, Marty Porter, Colleen Canavan, Andreas Schulze, George A. Diaz, Susan A. Berry, Bryan E. Hainline, Robert L. Conway
Publikováno v:
Molecular genetics and metabolism
Background/Aims: Neonatal onset Urea cycle disorders (UCDs) can be life threatening with severe hyperammonemia and poor neurological outcomes. Glycerol phenylbutyrate (GPB) is safe and effective in reducing ammonia levels in patients with UCD above 2
Autor:
Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Phenylketonuria (PKU), caused by variants in the phenylalanine hydroxylase (PAH) gene, is the most common autosomal-recessive Mendelian phenotype of amino acid metabolism. We estimated that globally 0.45 million individuals have PKU, with global prev
Autor:
Elizabeth G. Ames, Corey Powell, Rachel M. Engen, Donald J. Weaver, Asif Mansuri, Michelle N. Rheault, Keia Sanderson, Uta Lichter-Konecki, Ankana Daga, Lindsay C. Burrage, Ayesha Ahmad, Scott E. Wenderfer, Kera E. Luckritz
Publikováno v:
J Pediatr
OBJECTIVE: To assess the outcomes of neonates in a contemporary multi-institutional cohort who receive renal replacement therapy (RRT) for hyperammonemia. STUDY DESIGN: We performed a retrospective analysis of 51 neonatal patients with confirmed inbo