U Lichter-Konecki
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Explore the profile of U Lichter-Konecki including associated specialties, affiliations and a list of published articles.
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45
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Recent Articles
1.
Wynn J, Ottman R, Duong J, Wilson A, Ahimaz P, Martinez J, et al.
Clin Genet
. 2017 Dec;
93(5):1039-1048.
PMID: 29266212
Clinical exome sequencing (CES) is increasingly being used as an effective diagnostic tool in the field of pediatric genetics. We sought to evaluate the parental experience, understanding and psychological impact...
2.
Mokhtarani M, Diaz G, Lichter-Konecki U, Berry S, Bartley J, McCandless S, et al.
Mol Genet Metab Rep
. 2017 Jun;
5:12-14.
PMID: 28649536
Urinary phenylacetylglutamine (U-PAGN) concentrations in spot urine samples were analyzed as a dosing biomarker during glycerol phenylbutyrate (GPB) dosing in 68 healthy adults and 66 adult and pediatric patients with...
3.
Lee B, Diaz G, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry S, et al.
Mol Genet Metab
. 2015 Nov;
117(1):27-32.
PMID: 26586473
Unlabelled: Blood ammonia and glutamine levels are used as biomarkers of control in patients with urea cycle disorders (UCDs). This study was undertaken to evaluate glutamine variability and utility as...
4.
Mokhtarani M, Diaz G, Rhead W, Berry S, Lichter-Konecki U, Feigenbaum A, et al.
Mol Genet Metab
. 2013 Oct;
110(4):446-53.
PMID: 24144944
Background: Phenylacetic acid (PAA) is the active moiety in sodium phenylbutyrate (NaPBA) and glycerol phenylbutyrate (GPB, HPN-100). Both are approved for treatment of urea cycle disorders (UCDs) - rare genetic...
5.
Monteleone J, Mokhtarani M, Diaz G, Rhead W, Lichter-Konecki U, Berry S, et al.
J Clin Pharmacol
. 2013 Jun;
53(7):699-710.
PMID: 23775211
Sodium phenylbutyrate and glycerol phenylbutyrate mediate waste nitrogen excretion in the form of urinary phenylacetylglutamine (PAGN) in patients with urea cycle disorders (UCDs); rare genetic disorders characterized by impaired urea...
6.
Mokhtarani M, Diaz G, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, et al.
Mol Genet Metab
. 2012 Sep;
107(3):308-14.
PMID: 22958974
Unlabelled: We have analyzed pharmacokinetic data for glycerol phenylbutyrate (also GT4P or HPN-100) and sodium phenylbutyrate with respect to possible dosing biomarkers in patients with urea cycle disorders (UCD). Study...
7.
Lichter-Konecki U
J Inherit Metab Dis
. 2008 Aug;
31(4):492-502.
PMID: 18683079
Acute hyperammonaemia (HA) causes cerebral oedema and severe brain damage in patients with urea cycle disorders (UCDs) or acute liver failure (ALF). Chronic HA is associated with developmental delay and...
8.
Lichter-Konecki U, Farber L, Cronin J, Suchy S, Nussbaum R
Mol Genet Metab
. 2006 Jun;
89(1-2):121-8.
PMID: 16777452
Lowe syndrome is a rare X-linked disease characterized by congenital cataracts, defects in renal tubule cell function, and mental retardation. Mutations in the OCRL1 gene, which encodes ocrl1, a phosphatidylinositol-4,5-bisphosphate...
9.
Johnston J, Lichter-Konecki U, Wilson E, Cobb B, Evans B, Schnur R, et al.
J Inherit Metab Dis
. 2004 May;
27(2):157-63.
PMID: 15159646
Classical phenylketonuria (PKU) and mild hyperphenylalaninaemia (MHP) are two ends of the broad diagnostic spectrum in phenylalanine hydroxylase (PAH) deficiency. We have analysed a family in which classical PKU, MHP...
10.
Lichter-Konecki U, Broman K, Blau E, Konecki D
Am J Hum Genet
. 2000 Nov;
68(1):264-8.
PMID: 11090339
Autosomal dominant renal Fanconi syndrome is a genetic model for the study of proximal renal tubular transport pathology. We were able to map the locus for this disease to human...