Works by Donna Krasnewich

Results: 17

Human glycosylation disorders.

Published in:

Cancer Biomarkers, 2014, v. 14, n. 1, p. 3, doi. 10.3233/CBM-130374

By:

Krasnewich, Donna

Publication type:

Article

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type Ij (Communicated by Elizabeth Neufeld).

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239

By:

Xiaohua Wu;
Jeffrey S. Rush;
Denise Karaoglu;
Donna Krasnewich;
Mark S. Lubinsky;
Charles J. Waechter;
Reid Gilmore;
Hudson H. Freeze

Publication type:

Article

Deficiency of UDP?GlcNAc:Dolichol Phosphate N?Acetylglucosamine?1 Phosphate Transferase (DPAGT1) Causes a Novel Congenital Disorder of Glycosylation Type IjCommunicated by Elizabeth Neufeld.

Published in:

Human Mutation, 2003, v. 22, n. 2, p. 144, doi. 10.1002/humu.10239

By:

Xiaohua Wu;
Jeffrey S. Rush;
Denise Karaoglu;
Donna Krasnewich;
Mark S. Lubinsky;
Charles J. Waechter;
Reid Gilmore;
Hudson H. Freeze

Publication type:

Article

Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.

Published in:

FASEB Journal, 2008, v. 22, n. 11, p. 3846, doi. 10.1096/fj.08-110890

By:

Klootwijk, Riko D.;
Savelkoul, Paul J. M.;
Ciccone, Carla;
Manoli, Irini;
Caplen, Natasha J.;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan

Publication type:

Article

Brief report: Translocation involving chromosomes 1 and 7 in a boy with childhood-onset schizophrenia.

Published in:

Journal of Autism & Developmental Disorders, 1994, v. 24, n. 4, p. 537, doi. 10.1007/BF02172134

By:

Gordon, Charles T.;
Krasnewich, Donna

Publication type:

Article

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.

Published in:

2007

By:

Galeano, Belinda;
Klootwijk, Riko;
Manoli, Irini;
MaoSen Sun;
Ciccone, Carla;
Darvish, Daniel;
Starost, Matthew F.;
Zerfas, Patricia M.;
Hoffmann, Victoria J.;
Hoogstraten-Miller, Shelley;
Krasnewich, Donna M.;
Gahl, William A.;
Huizing, Marjan;
Sun, MaoSen

Publication type:

journal article

Classic nephrotic cytinosis as an adult disease.

Published in:

JAMA: Journal of the American Medical Association, 1993, v. 270, n. 18, p. 2200, doi. 10.1001/jama.1993.03510180070036

By:

Theodoropoulos, Demetrios S.;
Krasnewich, Donna

Publication type:

Article

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG).

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12782

By:

Weixel, Tara;
Adedipe, Dee;
Muldoon, Glennis;
Lam, Christina;
Krasnewich, Donna;
Thurm, Audrey;
Wolfe, Lynne

Publication type:

Article

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 148, doi. 10.1002/jimd.12286

By:

Altassan, Ruqaiah;
Radenkovic, Silvia;
Edmondson, Andrew C.;
Barone, Rita;
Brasil, Sandra;
Cechova, Anna;
Coman, David;
Donoghue, Sarah;
Falkenstein, Kristina;
Ferreira, Vanessa;
Ferreira, Carlos;
Fiumara, Agata;
Francisco, Rita;
Freeze, Hudson;
Grunewald, Stephanie;
Honzik, Tomas;
Jaeken, Jaak;
Krasnewich, Donna;
Lam, Christina;
Lee, Joy

Publication type:

Article

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Published in:

BMC Neurology, 2007, v. 7, p. 3, doi. 10.1186/1471-2377-7-3

By:

Sparks, Susan;
Rakocevic, Goran;
Joe, Galen;
Manoli, Irini;
Shrader, Joseph;
Harris-Love, Michael;
Sonies, Barbara;
Ciccone, Carla;
Dorward, Heidi;
Krasnewich, Donna;
Huizing, Marjan;
Dalakas, Marinos C.;
Gahl, William A.

Publication type:

Article

A Participatory Framework for Plain Language Clinical Management Guideline Development.

Published in:

International Journal of Environmental Research & Public Health, 2022, v. 19, n. 20, p. 13506, doi. 10.3390/ijerph192013506

By:

Francisco, Rita;
Alves, Susana;
Gomes, Catarina;
Granjo, Pedro;
Pascoal, Carlota;
Brasil, Sandra;
Neves, Alice;
Santos, Inês;
Miller, Andrea;
Krasnewich, Donna;
Morava, Eva;
Lam, Christina;
Jaeken, Jaak;
Videira, Paula A.;
dos Reis Ferreira, Vanessa

Publication type:

Article

Familial dementia caused by polymerization of mutant neuroserpin.

Published in:

Nature, 1999, v. 401, n. 6751, p. 376, doi. 10.1038/43897

By:

Davis, Richard L.;
Shrimpton, Antony E.;
Holohan, Peter D.;
Bradshaw, Charles;
Feiglin, David;
Collins, George H.;
Sonderegger, Peter;
Kinter, Jochen;
Becker, Lyn Marie;
Lacbawan, Felicitas;
Krasnewich, Donna;
Muenke, Maximilian;
Lawrence, Daniel A.;
Yerby, Mark S.;
Shaw, Cheng-Mei;
Gooptu, Bibek;
Elliott, Peter R.;
Finch, John T.;
Carrell, Robin W.;
Lomas, David A.

Publication type:

Article

Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.

Published in:

Glycobiology, 2005, v. 15, n. 11, p. 1102, doi. 10.1093/glycob/cwi100

By:

Susan E. Sparks;
Carla Ciccone;
Molly Lalor;
Eduard Orvisky;
Riko Klootwijk;
Paul J. Savelkoul;
Marinos C. Dalakas;
Donna M. Krasnewich;
William A. Gahl;
Marjan Huizing

Publication type:

Article

Neurologic Course of Congenital Disorders of Glycosylation.

Published in:

Journal of Child Neurology, 2001, v. 16, n. 6, p. 409, doi. 10.1177/088307380101600604

By:

Pearl, Phillip L.;
Krasnewich, Donna

Publication type:

Article

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

Published in:

Human Mutation, 1995, v. 6, n. 1, p. 66, doi. 10.1002/humu.1380060113

By:

Hahn, Si Houn;
Krasnewich, Donna;
Brantly, Mark;
Kvittingen, Eli Anne;
Gahl, William A.

Publication type:

Article

Life-threatening splenic hemorrhage in two patients with Gaucher disease.

Published in:

American Journal of Hematology, 2000, v. 64, n. 2, p. 140, doi. 10.1002/(SICI)1096-8652(200006)64:2<140::AID-AJH14>3.0.CO;2-T

By:

Stone, Deborah L.;
Ginns, Edward I.;
Krasnewich, Donna;
Sidransky, Ellen

Publication type:

Article

The dbGaP data browser: a new tool for browsing dbGaP controlled-access genomic data.

Published in:

Nucleic Acids Research, 2017, v. 45, n. D1, p. D819, doi. 10.1093/nar/gkw1139

By:

Wong, Kira M.;
Langlais, Kristofor;
Tobias, Geoffrey S.;
Fletcher-Hoppe, Colette;
Krasnewich, Donna;
Leeds, Hilary S.;
Rodriguez, Laura Lyman;
Godynskiy, Georgy;
Schneider, Valerie A.;
Ramos, Erin M.;
Sherry, Stephen T.

Publication type:

Article