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Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

Autor: Shimada S; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA s-shimada@juntendo.ac.jp.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Ng BG; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA., White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Nickander KK; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Turgeon C; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Liedtke KL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Lam CT; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Font-Montgomery E; University Hospital Medical Genetics Clinic, University of Missouri, Columbia, Missouri, USA., Lourenco CM; Department of Medical Genetics, School of Medicine, Neurogenetics Unit, University, Sao Paulo, Sao Paulo, Brazil.; Faculdade de Medicina, Centro Universitario Estácio de Ribeirão Preto, Ribeirão Preto, Brazil., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Umana LA; Division of Genetics and Metabolism, Department of Pediatrics, The University of Texas Southwestern Medical Center, Dallas, Texas, USA., Uhles CL; Department of Genetics, Children's Medical Center Dallas, Dallas, Texas, USA., Haynes D; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando, Florida, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Nickerson DA; Professor of Genome Sciences and Bioengineering, University of Washington, Seattle, Washington, USA., Cushing T; Division of Pediatric Genetics, Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque, New Mexico, USA., Gates R; Division of Medical Genetics, Stanford University, Stanford, California, USA., Gomez-Ospina N; Division of Medical Genetics, Stanford University, Stanford, California, USA., Byers HM; Division of Medical Genetics, Stanford University, Stanford, California, USA., Scalco FB; Laboratório de Erros Inatos do Metabolismo/LABEIM, Instituto de Química, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil., Martinez NN; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia., Sachdev R; Center for Clinical Genetics, Sydney Children's Hospital Randwick, Randwick, New South Wales, Australia.; School of Women's & Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Smith L; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Poduri A; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Malone S; Department of Neurosciences, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Harris RV; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Scheffer IE; Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia., Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, and Primary Immunodeficiency Clinic, National Institute of Allergy and Infectious Diseases, Bethesda, Maryland, USA., Adams DR; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Gahl WA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Malicdan MCV; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Raymond KM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Freeze HH; Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, California, USA., Wolfe LA; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, Maryland, USA.; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

Publikováno v: Journal of medical genetics [J Med Genet] 2022 Jul 05. Date of Electronic Publication: 2022 Jul 05.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Autor: Peck DS; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Lacey JM; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., White AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Pino G; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Studinski AL; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Fisher R; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.)., Ahmad A; Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, University of Michigan, Ann Arbor, MI 48109, USA; firachel@med.umich.edu (R.F.); ayeshaah@med.umich.edu (A.A.)., Spencer L; Division of Genetic, Genomic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, MI 48201, USA; lspencer@dmc.org., Viall S; Rare Disease Institute, Children's National Health System, Washington, DC 20010, USA; sviall@childrensnational.org., Shallow N; Division of Medical Genetics and Genomic Medicine, Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA; natalie.shallow@vumc.org., Siemon A; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA; amy.siemon@nationwidechildrens.org., Hamm JA; Pediatric Genetics, East Tennessee Children's Hospital, Knoxville, TN 37916, USA; jahamm@etch.com., Murray BK; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.)., Jones KL; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA 23507, USA; brianna.murray@chkd.org (B.K.M.); kelly.jones@chkd.org (K.L.J.)., Gavrilov D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Oglesbee D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Raymond K; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Matern D; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Rinaldo P; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.)., Tortorelli S; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; lacey.jean@mayo.edu (J.M.L.); white.amy1@mayo.edu (A.L.W.); pino.gisele@mayo.edu (G.P.); studinski.april@mayo.edu (A.L.S.); gavrilov.dimitar@mayo.edu (D.G.); oglesbee.devin@mayo.edu (D.O.); raymond.kimiyo@mayo.edu (K.R.); matern@mayo.edu (D.M.); rinaldo@mayo.edu (P.R.).

Publikováno v: International journal of neonatal screening [Int J Neonatal Screen] 2020 Feb 07; Vol. 6 (1), pp. 10. Date of Electronic Publication: 2020 Feb 07 (Print Publication: 2020).

Cost Efficacy of α-Galactosidase A Enzyme Screening for Fabry Disease.

Autor: Newman DB; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN. Electronic address: newman.darrell@mayo.edu., Miranda WR; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Matern D; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Peck DS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Geske JB; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Maleszewski JJ; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN., Ommen SR; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN., Ackerman MJ; Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.

Publikováno v: Mayo Clinic proceedings [Mayo Clin Proc] 2019 Jan; Vol. 94 (1), pp. 84-88.

Fabry disease in infancy and early childhood: a systematic literature review.

Autor: Laney DA; Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA., Peck DS; Division of Medical Genetics, University of Missouri Children's Hospital, University of Missouri Health System, Columbia, Missouri, USA., Atherton AM; Section of Genetics, Children's Mercy Hospitals, Kansas City, Missouri, USA., Manwaring LP; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA., Christensen KM; Division of Medical Genetics, SSM Cardinal Glennon Children's Medical Center, St. Louis, Missouri, USA., Shankar SP; Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, Missouri, USA., Wilcox WR; Division of Medical Genetics, Department of Human Genetics, Decatur, Georgia, USA., Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Missouri, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 May; Vol. 17 (5), pp. 323-30. Date of Electronic Publication: 2014 Sep 18.