Joan Keutzer

Medicine · Health Sciences

32h-index3.9kcitations79works0.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(70), Glycogen Storage Diseases and Myoclonus(19), Trypanosoma species research and implications(18), Cellular transport and secretion(13), Carbohydrate Chemistry and Synthesis(10)

Publications79 total

Acid sphingomyelinase deficiency (ASMD): Genotype-phenotype correlation and variant frequency
Molecular Genetics and Metabolism·2025
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
Molecular Genetics and Metabolism·2023· 9 cited
Differential diagnosis of Niemann-Pick disease type A/B in cases of suspected Gaucher disease
Molecular Genetics and Metabolism·2022
Use of Identical INN “Imiglucerase” for Different Drug Products: Impact Analysis of Adverse Events in a Proprietary Global Safety Database
Drug Safety·2022· 3 citedOpen Access
The incidence of acid sphingomyelinase deficiency (ASMD) in cases of suspected Gaucher disease, genotype-phenotype correlation together with Lyso-SPM biomarker
Molecular Genetics and Metabolism·2021
Sargramostim (rhu GM-CSF) Improves Survival of Non-Human Primates with Severe Bone Marrow Suppression after Acute, High-Dose, Whole-Body Irradiation
Radiation Research·2020· 48 citedOpen Access
Establishing Pompe Disease Newborn Screening: The Role of Industry
International Journal of Neonatal Screening·2020· 12 citedOpen Access
Mixed safety signals as a result of use of the INN “imiglucerase” for three different products that are not biosimilars: Analysis of adverse events in the Sanofi Genzyme Global Safety database
Molecular Genetics and Metabolism·2020
Alpha Galactosidase A Activity in Parkinson Disease (S45.005)
Neurology·2018
Alpha galactosidase A activity in Parkinson's disease
Neurobiology of Disease·2018· 81 citedOpen Access
Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay
Molecular Genetics and Metabolism·2017· 13 citedOpen Access
Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease
Journal of Neuroscience·2017· 235 citedOpen Access
Letter to the Editor on Pastores et al. Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease
Blood Cells Molecules and Diseases·2017
Glucosylsphingosine accelerates α-synuclein pathology in GBA-associated Parkinson disease
Molecular Genetics and Metabolism·2017
Sargramostim Accelerates Leukocyte Recovery and Improves Mortality Rate at Day 60 in a Non-Human Primate Model of Hematopoietic Acute Radiation Syndrome When Administered 48 h after Total Body Irradiation
Blood·2016· 9 cited
Glucosylsphingosine is a key biomarker of Gaucher disease
American Journal of Hematology·2016· 186 citedOpen Access
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing
Orphanet Journal of Rare Diseases·2016· 57 citedOpen Access
Glucocerebrosidase activity in Parkinson’s disease with and without<i>GBA</i>mutations
Brain·2015· 389 citedOpen Access
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate
Molecular Genetics and Metabolism Reports·2015· 5 citedOpen Access
Glucocerebrosidase activity in Parkinson disease with and without GBA mutations (S7.003)
Neurology·2015· 2 cited
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Frequent Co-authors

Priya S. Kishnani(9), Wei‐Lien Chuang(8), Yin‐Hsiu Chien(7), Wuh‐Liang Hwu(7), Petra Oliva(6), Kate Zhang(6), Pavlina Wolf(5), Olaf A. Bodamer(5), Adolf Mühl(5), Joseph J. Orsini(5), Petra Olivova(5), Roy N. Alcalay(4), Michael W. Pauciulo(4), William C. Nichols(4), Ziv Gan‐Or(4), Wendy K. Chung(4), Pramod K. Mistry(4), Ni‐Chung Lee(4), Carole Elbin(4), Samantha Cooper(4)