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Search Results - Kronquist, Kathryn E.
Search Results - Kronquist, Kathryn E.
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
by
Coughlin, Curtis R.
,
Swanson, Michael A.
,
Spector, Elaine
,
Meeks, Naomi J. L.
,
Kronquist, Kathryn E.
,
Aslamy, Mezhgan
,
Wempe, Michael F.
,
van Karnebeek, Clara D. M.
,
Gospe, Sidney M.
,
Aziz, Verena G.
,
Tsai, Becky P.
,
Gao, Hanlin
,
Nagy, Peter L.
,
Hyland, Keith
,
van Dooren, Silvy J. M.
,
Salomons, Gajja S.
,
Van Hove, Johan L. K.
Published in
Journal of inherited metabolic disease
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Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase...
by
Van Hove, Johan L. K.
,
Freehauf, Cynthia L.
,
Ficicioglu, Can
,
Pena, Loren D. M.
,
Moreau, Kerrie L.
,
Henthorn, Thomas K.
,
Christians, Uwe
,
Jiang, Hua
,
Cowan, Tina M.
,
Young, Sarah P.
,
Hite, Michelle
,
Friederich, Marisa W.
,
Stabler, Sally P.
,
Spector, Elaine B.
,
Kronquist, Kathryn E.
,
Thomas, Janet A.
,
Emmett, Peggy
,
Harrington, Mary J.
,
Pyle, Laura
,
Creadon‐Swindell, Geralyn
,
Wempe, Michael F.
,
MacLean, Kenneth N.
Published in
Journal of inherited metabolic disease
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Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene
by
Coughlin, Curtis R.
,
Swanson, Michael A.
,
Spector, Elaine B.
,
Kronquist, Kathryn E.
,
Van Hove, Johan L.K.
Published in
Pediatric neurology
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy
by
Coughlin, Curtis R.
,
Swanson, Michael A.
,
Spector, Elaine
,
Meeks, Naomi J. L.
,
Kronquist, Kathryn E.
,
Aslamy, Mezhgan
,
Wempe, Michael F.
,
van Karnebeek, Clara D. M.
,
Gospe, Sidney M.
,
Aziz, Verena G.
,
Tsai, Becky P.
,
Gao, Hanlin
,
Nagy, Peter L.
,
Hyland, Keith
,
van Dooren, Silvy J. M.
,
Salomons, Gajja S.
,
Van Hove, Johan L. K.
Published in
Journal of inherited metabolic disease
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WARFARIN DOSING ALGORITHM REFINEMENTS AFTER 7-9 DAYS OF THERAPY BASED ON PHARMACOGENETIC, PHARMACOKINETIC, CLINICAL, AND LABORATORY DATA
by
Horne, Benjamin D
,
Lenzini, Petra A
,
Wadelius, Mia
,
Jorgensen, Andrea L
,
Kimmel, Stephen E
,
Eriksson, Niclas
,
Anderson, Jeffrey L
,
Pirmohamed, Munir
,
Limdi, Nita A
,
Burmester, James K
,
Kurnik, Daniel
,
Stein, Charles M
,
Caldwell, Michael D
,
Eby, Charles S
,
Rane, Anders
,
Lindh, John D
,
Shin, Jae-Gook
,
Kim, Ho-Sook
,
Angchaisuksiri, Pantep
,
Chen, Jinbo
,
Carlquist, John F
,
Grice, Gloria R
,
Kronquist, Kathryn E
,
Gage, Brian F
Published in
Journal of the American College of Cardiology
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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
by
Coughlin, 2nd, Curtis R
,
Swanson, Michael A
,
Spector, Elaine
,
Meeks, Naomi J L
,
Kronquist, Kathryn E
,
Aslamy, Mezhgan
,
Wempe, Michael F
,
van Karnebeek, Clara D M
,
Gospe, Jr, Sidney M
,
Aziz, Verena G
,
Tsai, Becky P
,
Gao, Hanlin
,
Nagy, Peter L
,
Hyland, Keith
,
van Dooren, Silvy J M
,
Salomons, Gajja S
,
Van Hove, Johan L K
Published in
Journal of inherited metabolic disease
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PCR-based cystic fibrosis (CF) carrier screening in a first-year medical student biochemistry laboratory
by
GRODY, W. W
,
KRONQUIST, K. E
,
LEE, E. U
,
EDMOND, J
,
ROME, L. H
Published in
American journal of human genetics
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Subpopulations of Liver Coated Vesicles Resolved by Preparative Agarose Gel Electrophoresis
by
Kedersha, Nancy L.
,
Hill, Diane F.
,
Kronquist, Kathryn E.
,
Rome, Leonard H.
Published in
The Journal of cell biology
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Purification and partial characterization of an integral membrane glycoprotein from zymogen granules of dog pancreas
by
Lewis, Dougas S.
,
Macdonald, Raymond J.
,
Kronquist, Kathryn E.
,
Ronzio, Robert A.
Published in
FEBS letters
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Laboratory and clinical outcomes of pharmacogenetic vs. clinical protocols for warfarin initiation in orthopedic patients
by
LENZINI, P. A.
,
GRICE, G. R.
,
MILLIGAN, P. E.
,
DOWD, M. B.
,
SUBHERWAL, S.
,
DEYCH, E.
,
EBY, C. S.
,
KING, C. R.
,
PORCHE‐SORBET, R. M.
,
MURPHY, C. V.
,
MARCHAND, R.
,
MILLICAN, E. A.
,
BARRACK, R. L.
,
CLOHISY, J. C.
,
KRONQUIST, K.
,
GATCHEL, S. K.
,
GAGE, B. F.
Published in
Journal of thrombosis and haemostasis
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Successful HCV genotyping of previously failed and low viral load specimens using an HCV RNA qualitative assay based on transcription-mediated amplification in conjunction with the...
by
Comanor, Lorraine
,
Elkin, Claudia
,
Leung, Kimmy
,
Krajden, Mel
,
Kronquist, Kathryn
,
Nicolas, Keith
,
Horansky, Evelyn
,
deMedina, Maria
,
Kittichai, Promrat
,
Sablon, Erwin
,
Ziermann, Rainer
,
Sherlock, Chris
Published in
Journal of clinical virology
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Journal Of Inherited Metabolic Disease
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American Journal Of Human Genetics
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Febs Letters
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Journal Of Clinical Virology
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Journal Of The American College Of Cardiology
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Pyridoxine
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Aldh7A1
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Alpha Aminoadipic Semialdehyde
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Animals
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Encephalopathy
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Epilepsy
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