Search Results - "D’Aco, Kristin"

Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency and Two MTHFR Variants in an Adolescent With Progressive Myoclonic Epilepsy by D'Aco, Kristin E., MD, Bearden, David, MD, Watkins, David, PhD, Hyland, Keith, PhD, Rosenblatt, David S., MD, Ficicioglu, Can, MD, PhD

“…Abstract Background 5,10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is an inborn error of the folate-recycling pathway that affects the…”
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Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood by D'Aco, Kristin E, Manno, Megan, Clarke, Colleen, Ganesh, Jaya, Meyers, Kevin E C, Sondheimer, Neal

“…We identified a mitochondrial tRNA mutation (m.586 G > A) in a patient with renal failure and symptoms consistent with a mitochondrial cytopathy. This mutation…”
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Clinical neurogenetics: neurologic presentations of metabolic disorders by Kwon, Jennifer M, D'Aco, Kristin E

“…This article reviews aspects of the neurologic presentations of selected treatable inborn errors of metabolism within the category of small molecule disorders…”
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221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative by Bentler, Kristi, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Vockley, Jerry, Cameron, Cynthia A., Hiner, Sally J., Edick, Mathew J., Berry, Susan A., Thomas, Janet, Dodge, Melinda, Singh, Rani, Lakshman, Sangeetha, Coakley, Katie, Stembridge, Adrya, Russi, Alvaro Serrano, Phillips, Emily, Burton, Barbara, Edano, Clare, Shrestha, Sheela, Hoganson, George, Dwyer, Lauren, Hainline, Bryan, Romie, Susan, Hainline, Sarah, Asamoah, Alexander, Goodin, Kara, Rajakaruna, Cecilia, Jackson, Kelly, Hamosh, Ada, Vernon, Hilary, Smith, Nancy, Ahmad, Ayesha, Lipinski, Sue, Feldman, Gerald, Berry, Susan, Elsbecker, Sara, Bentler, Kristi, Font-Montgomery, Esperanza, Peck, Dawn, Pena, Loren D.M., Koeberl, Dwight D., Jiang, Yong-hui, Kishnani, Priya S., Rizzo, William, Dawson, Machelle, Ambrose, Nancy, Levy, Paul, Kronn, David, Fong, Chin-to, D’Aco, Kristin, Hart, Theresa, Erbe, Richard, Samons, Melissa, Leslie, Nancy, Powers, Racheal, Bartholomew, Dennis, Goff, Melanie, vanCalcar, Sandy, Hansen, Joyanna, Arnold, Georgianne, Vockley, Jerry, Walsh-Vockley, Cate, Rhead, William, Dimmock, David, Engelking, Paula, Bird, Cassie, Swan, Ashley, Schwoerer, Jessica Scott, Henry, Sonja, Narumanchi, TaraChandra, Hummel, Marybeth, Wilkins, Jennie, Davis-Keppen, Laura, Stein, Quinn, Loman, Rebecca, Cameron, Cynthia, Edick, Mathew J., Hiner, Sally J., Justice, Kaitlin, Zhai, Shaohui

“…There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain…”
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Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease by Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D'Aco, Kristin

“…Galactosemia is an inborn error of galactose metabolism caused by mutations in the GALT gene. Though early detection and galactose restriction prevent severe…”
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Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry by D’Aco, Kristin, Underhill, Lisa, Rangachari, Lakshmi, Arn, Pamela, Cox, Gerald F., Giugliani, Roberto, Okuyama, Torayuki, Wijburg, Frits, Kaplan, Paige

“…Our objective was to assess how the diagnosis and treatment of mucopolysaccharidosis I (MPS I) have changed over time. We used data from 891 patients in the…”
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An 8-year-old girl with a history of stiff and painful joints by Raiman, Julian, D'Aco, Kristin

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Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes by Glatz, Catherine, D'Aco, Kristin, Smith, Sabrina, Sondheimer, Neal

“…An m.1630A>G mutation in the mitochondrial tRNA Val (MTTV 1 ) was identified in a patient with hearing impairment, short stature and new onset of stroke. This…”
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Clinical Neurogenetics by Kwon, Jennifer M., MD, D’Aco, Kristin E., MD

“…This article reviews aspects of the neurologic presentations of selected treatable inborn errors of metabolism within the category of small molecule disorders…”
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Mitochondrial tRNAPhe mutation as a cause of end-stage renal disease in childhood by D’Aco, Kristin E., Manno, Megan, Clarke, Colleen, Ganesh, Jaya, Meyers, Kevin E. C., Sondheimer, Neal

“…Background We identified a mitochondrial tRNA mutation (m.586 G > A) in a patient with renal failure and symptoms consistent with a mitochondrial cytopathy…”
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Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes by Glatz, Catherine, D'Aco, Kristin, Smith, Sabrina, Sondheimer, Neal

“…An m.1630A>G mutation in the mitochondrial tRNA(Val) (MTTV) was identified in a patient with hearing impairment, short stature and new onset of stroke. This…”
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WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome by DeSanto, Cori, D'Aco, Kristin, Araujo, Gabriel C, Shannon, Nora, Vernon, Hilary, Rahrig, April, Monaghan, Kristin G, Niu, Zhiyv, Vitazka, Patrik, Dodd, Jonathan, Tang, Sha, Manwaring, Linda, Martir-Negron, Arelis, Schnur, Rhonda E, Juusola, Jane, Schroeder, Audrey, Pan, Vivian, Helbig, Katherine L, Friedman, Bethany, Shinawi, Marwan

“…Rare de novo mutations have been implicated as a significant cause of idiopathic intellectual disability. Large deletions encompassing 10p11.23 have been…”
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What is in the can? The dilemma with dietary supplements by D'Aco, Kristin, Mooney, Robert, Cusmano-Ozog, Kristina, Hofherr, Sean, Lichter-Konecki, Uta

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Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia by Cocanougher, Benjamin, Aypar, Umut, McDonald, Amber, Hasadsri, Linda, Bennett, Michael J., Edward Highsmith, W., D׳Aco, Kristin

“…Galactosemia is a metabolic disorder caused by mutations in the GALT gene [1,2]. We encountered a patient heterozygous for a known pathogenic H132Q mutation…”
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Mitochondrial tRNA^sup Phe^ mutation as a cause of end-stage renal disease in childhood by D'aco, Kristin E, Manno, Megan, Clarke, Colleen, Ganesh, Jaya, Meyers, Kevin E; C, Sondheimer, Neal

“…We identified a mitochondrial tRNA mutation (m.586 G>A) in a patient with renal failure and symptoms consistent with a mitochondrial cytopathy. This mutation…”
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Mitochondrial [tRNA.sup.Phe] mutation as a cause of end-stage renal disease in childhood by D'Aco, Kristin E, Manno, Megan, Clarke, Colleen, Ganesh, Jaya, Meyers, Kevin E.C, Sondheimer, Neal

“…Background We identified a mitochondrial tRNA mutation (m.586 G>A) in a patient with renal failure and symptoms consistent with a mitochondrial cytopathy. This…”
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Mutation in the mitochondrial tRNA[super]Val causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes by Glatz, Catherine, D'Aco, Kristin, Smith, Sabrina, Sondheimer, Neal

“…An m.1630AG mutation in the mitochondrial tRNA[super]Val (MTTV) was identified in a patient with hearing impairment, short stature and new onset of stroke…”
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Combination of Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation among MPS I Patients: An MPS I Registry Analysis by D'Aco, Kristin, Wraith, Edmond, Whitley, Chester, Wijburg, Fritz, Vellodi, Ashok, Parini, Rossella, Kaplan, Paige, Stein, Heather, Rangachari, Lakshmi, Cox, Gerald

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