Back to Search
DONNA KRASNEWICH, M.D., PH.D.
M.D., PH.D.
Ph.D. Medical Genetics
NPI: 1821135807Individual
Specialties, Licenses & Credentials
Ph.D. Medical GeneticsPrimary
Medical Genetics, Ph.D. Medical Genetics
Code: 170100000X
MD17820(DC)
Research & Publications (20)
Hereditary inclusion body myopathy: a decade of progress.
PMID 19596068·Biochim Biophys Acta·2009
6-review
Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19.
PMID 19133694·Am J Med Genet A·2009
5-case
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
PMID 18653764·FASEB J·2008
8-other
Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia).
PMID 17639595·Am J Med Genet C Semin Med Genet·2007
5-case
Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.
PMID 17954208·Hum Pathol·2007
5-case
CDG-Id in two siblings with partially different phenotypes.
PMID 17551933·Am J Med Genet A·2007
5-case
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
PMID 17549255·J Clin Invest·2007
7-preclinical
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
PMID 17261181·BMC Neurol·2007
5-case
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
PMID 16762577·Mol Genet Metab·2006
8-other
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
PMID 15987957·Glycobiology·2005
8-other
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
PMID 15172001·Mol Genet Metab·2004
5-case
Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation.
PMID 14735585·Am J Med Genet A·2004
5-case
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
PMID 14972325·Mol Genet Metab·2004
8-other
Long-term follow-up of well-treated nephropathic cystinosis patients.
PMID 15480385·J Pediatr·2004
5-case
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
PMID 12872255·Hum Mutat·2003
4-observational
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
PMID 12794688·Am J Med Genet A·2003
5-case
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
PMID 12794687·Am J Med Genet A·2003
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 10104 FREDERICK AVE
KENSINGTON, MD 20895 - Phone
- (301) 962-6441
Quick Facts
- NPI
- 1821135807
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
Are you this provider?
Claim Your Profile