引用次数
引用: 8,216
H-指数: 47
I10-指数 : 123
出版物: 344
DIRECT CARRIER TESTING IN 14 FAMILIES WITH HAEMOPHILIA B
CynthiaD.K. Bottema , DwightD. Koeberl , SteveS. Sommer
The Lancet 334 ( 8662) 526 -529
27
1989
T296→M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection
RhettP. Ketterling , CynthiaD.K. Bottema , DwightD. Koeberl , Setsuko Ii
Human Genetics 87 ( 3) 333 -337
26
1991
SUS Glycogen storage disease Ia : A paradigm for the effect of metabolism on oncogenesis(SUS Society of University Surgeons Lecture)
Dm. Desai , B Sun , G Huang , D Koeberl
日本外科学会雑誌 115 ( 2) 115
2014
The use of non-depleting anti-CD4 monoclonal antibody for immune tolerance induction in Pompe disease
D Koeberl , S G Banugaria , D Bali , S N Prater
Molecular Genetics and Metabolism 105 290 -290
2
2012
American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
PS Kishnani , SL Austin , JE Abdenur , P Arn
Genet Med 16 ( 11) e1 -e1
53
2014
Glycogen storage diseases
PS Kishnani , D Koeberl , YT Chen
Pediatric Nutrition in Chronic Diseases and Developmental Disorders: Prevention, Assessment, and Treatment, 2nd edn. Oxford University Press: New York 350 -355
31
2005
Metabolic screening in the newborn
D Millington , D Koeberl
GGH 19 ( 3) 33 -8
19
2003
Minimum effective dose to achieve biochemical correction with AAV vector-mediated gene therapy in mice with Pompe disease
SO Han , D Gheorghiu , S Li , HR Kang
Hum. Gene Ther. 33 492 -498
2
2022
In Valle
YT Chen , P Kishnani , D Koeberl
D., Beaudet, A., Vogelstein, B., Kinzler, K., Antonarakis, S. and Ballabio, A.(eds), Scriver’s Online Metabolic & Molecular Bases of Inherited Disease. McGraw-Hill, New York
2
2009
CHARACTERIZATION OF LIVER AND MUSCLE PHENOTYPES IN A CANINE MODEL OF GLYCOGEN STORAGE DISEASE TYPE IIIA
B Sun , H Yi , B Thurberg , S Austin
JOURNAL OF INHERITED METABOLIC DISEASE 35 S80 -S80
2012
IDENTIFYING DEREGULATED MICRORNAS AS POTENTIAL BIOMARKERS FOR MALIGNANT TRANSFORMATION OF HUMAN HEPATOCELLUAR ADENOMA ASSOCIATED WITH TYPE IA GLYCOGEN STORAGE DISEASE
PS Kishnani , LY Chiu , D Bali , D Koeberl
TUMOR BIOLOGY 31 S57 -S57
2010
INFLUENCE OF CROSS-REACTING IMMUNOLOGIC MATERIAL STATUS ON TREATMENT OUTCOMES IN INFANTILE POMPE PATIENTS TREATED WITH RECOMBINANT HUMAN ACID ALPHA-GLUCOSIDASE
SG Banugaria , PC Goldenberg , SL DeArmey , J Heller
MOLECULAR GENETICS AND METABOLISM 98 ( 1-2) 59 -59
2009
A two tier follow-up system for tandem mass spectrometry newborn screening reduces the work load and increases specificity.
J Muenzer , D Frazier , D Millington , D Koeberl
MOLECULAR GENETICS AND METABOLISM 84 ( 3) 231 -232
2005
AAV8-mediated liver-directed gene therapy corrects blood phenylalanine in murine PKU.
CO Harding , MB Gillingham , K Hamman , H Clark
MOLECULAR GENETICS AND METABOLISM 84 ( 3) 222 -222
2005
Molecular findings and genotype/phenotype correlation in 57 MCAD deficient patients identified by newborn screening.
S McCandless , J Muenzer , D Millington , D Koeberl
GENETICS IN MEDICINE 6 ( 4) 270 -270
2004
SCIENTIFIC ARTICLES-Systemic Production of Human Granulocyte Colony-Stimulating Factor in Nonhuman Primates by Transplantation of Genetically Modified Myoblasts
PA Moisset , L Bonham , D Skuk , D Koeberl
Human Gene Therapy 11 ( 9) 1277 -1288
2000
Poster Session D-Hepatocyte-, myoblast-and stem cell-based therapy-Systemic production of G-CSF in non-human primates by myoblast transplantation
PA Moisset , L Bonham , D Skuk , D Koeberl
Cell Transplantation 8 ( 2) P79 -P79
1999
Enhanced gene expression of systemically administered plasmid DNA inthe liver with therapeutic ultrasound and microbubbles
E. Leyvi , S. Li , X. Luo , A. Bird
IEEE Transactions on Ultrasonics; authors version
9
2012
Whole-body rescue of Pompe disease with AAV liver delivery of engineered secretable GAA transgenes
P. Colella , F. Puzzo , M. Biferi , D. Bali
Neuromuscular Disorders 27
1
2017
Genomic amplification with transcript sequencing
E. Stoflet , D. Koeberl , G Sarkar , S. Sommer
Science 239 ( 4839) 491 -494
310
1988