Publications by authors named "Uta Lichter-Konecki"

41Publications

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

JCI Insight 2020 Oct 15;5(20). Epub 2020 Oct 15.

Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh School of Medicine, and Universityof Pittsburgh Medical Center (UPMC) Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.

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http://dx.doi.org/10.1172/jci.insight.141523DOI Listing
October 2020

Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.

Mol Genet Metab 2020 04 11;129(4):272-277. Epub 2020 Jan 11.

Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2020.01.005DOI Listing
April 2020

Phenylketonuria: Current Treatments and Future Developments.

Drugs 2019 Apr;79(5):495-500

Division Medical Genetics, Department of Pediatrics, University of Pittsburgh, School of Medicine, Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1007/s40265-019-01079-zDOI Listing
April 2019

Inborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and Creatine.

Pediatr Clin North Am 2018 04;65(2):267-277

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, UPMC, 4401 Penn Avenue, Pittsburgh, PA 15224, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pcl.2017.11.009DOI Listing
April 2018

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.002DOI Listing
November 2017

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.

J Cell Sci 2016 05 31;129(10):1975-80. Epub 2016 Mar 31.

Department of Medicine, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA

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http://dx.doi.org/10.1242/jcs.187302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4878994PMC
May 2016

Phenylketonuria (PKU): A problem solved?

Mol Genet Metab Rep 2016 Mar 29;6:8-12. Epub 2015 Dec 29.

Section of Neurology, St. Christopher's Hospital for Children, Dept. of Pediatrics, Drexel University College of Medicine, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2015.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789336PMC
March 2016

Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

JIMD Rep 2015 18;20:1-4. Epub 2015 Feb 18.

Medical Genetics Branch, Department of Health and Human Services, National Human Genome Research Institute, National Institutes of Health, 35 Convent Drive, MSC 3717, Room 1B207, Bethesda, MD, 20892-3717, USA,

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http://dx.doi.org/10.1007/8904_2014_367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375121PMC
March 2015

What is in the can? The dilemma with dietary supplements.

Mol Genet Metab 2014 Dec 22;113(4):239-40. Epub 2014 Oct 22.

Dept. of Pediatrics, Columbia University, College of Physicians and Surgeons, USA.

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http://dx.doi.org/10.1016/j.ymgme.2014.10.009DOI Listing
December 2014

Menkes disease in affected females: the clinical disease spectrum.

Am J Med Genet A 2015 Feb 26;167A(2):417-20. Epub 2014 Nov 26.

Division of Genetics & Metabolism, Children's National Health System, Washington, District of Columbia; The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia.

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http://dx.doi.org/10.1002/ajmg.a.36853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351723PMC
February 2015

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

J Pediatr 2014 Aug 29;165(2):401-403.e3. Epub 2014 May 29.

Center for Genetic Medicine Research, Children's National Health System, The George Washington University, Washington, DC.

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http://dx.doi.org/10.1016/j.jpeds.2014.04.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4111993PMC
August 2014

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Genomics in newborn screening.

J Pediatr 2014 Jan 27;164(1):14-9. Epub 2013 Aug 27.

Division of Genetics, Boston Children's Hospital and the Department of Pediatrics, Harvard Medical School, Boston, MA. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2013.07.028DOI Listing
January 2014

Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.

Mol Genet Metab 2013 Aug 29;109(4):354-9. Epub 2013 May 29.

Division Genetics & Metabolism, Children's National Medical Center, Dept. of Pediatrics, George Washington University MC, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.05.014DOI Listing
August 2013

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease.

JIMD Rep 2013 29;10:33-8. Epub 2012 Dec 29.

Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, 0010, USA.

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http://dx.doi.org/10.1007/8904_2012_197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755569PMC
May 2013

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

Mol Genet Metab 2011 26;104 Suppl:S2-9. Epub 2011 Aug 26.

University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.017DOI Listing
March 2012

Effectiveness of a clinical pathway for the emergency treatment of patients with inborn errors of metabolism.

Pediatrics 2008 Dec;122(6):1191-5

Department of Pediatrics, George Washington University School of Medicine and Health Sciences, Children's National Medical Center, 111 Michigan Ave, NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1542/peds.2008-0205DOI Listing
December 2008

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Mol Genet Metab 2008 Aug 17;94(4):397-402. Epub 2008 Jun 17.

Children's National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N.W., Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640937PMC
August 2008

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

Mol Genet Metab 2008 Aug 11;94(4):422-7. Epub 2008 Jun 11.

Department of Pediatrics, School of Medicine & Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.002DOI Listing
August 2008

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Clin Chem 2008 Jul 16;54(7):1141-8. Epub 2008 May 16.

Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1373/clinchem.2008.103721DOI Listing
July 2008