The porphyrias: advances in diagnosis and treatment

Yazar: Balwani, Manisha, Desnick, Robert J.
Baskı/Yayın Bilgisi 2012

Murine Models of the Human Porphyrias: Contributions Toward Understanding Disease Pathogenesis and the Development of New Therapies

Yazar: Yasuda, Makiko, Desnick, Robert J.
Yayımlandı Mol Genet Metab (2019)

Types A and B Niemann-Pick Disease

Yazar: Schuchman, Edward H., Desnick, Robert J.
Yayımlandı Mol Genet Metab (2016)

Congenital Erythropoietic Porphyria: Recent Advances

Yazar: Erwin, Angelika L., Desnick, Robert J.
Yayımlandı Mol Genet Metab (2018)

Recent Advances on Porphyria Genetics: Inheritance, Penetrance & Molecular Heterogeneity, Including New Modifying/Causative Genes

Yazar: Yasuda, Makiko, Chen, Brenden, Desnick, Robert J.
Yayımlandı Mol Genet Metab (2018)

Gaucher disease: when molecular testing and clinical presentation disagree-the novel c.1226A>G(p.N370S)–RecNcil allele

Yazar: Balwani, Manisha, Grace, Marie E., Desnick, Robert J.
Baskı/Yayın Bilgisi 2011

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants

Yazar: Tchaikovskii, Vassili, Desnick, Robert J., Bishop, David F.
Yayımlandı Mol Med (2019)

Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population

Yazar: Edelmann, Lisa, Dong, Jianli, Desnick, Robert J., Kornreich, Ruth
Baskı/Yayın Bilgisi 2002

Fabry Disease: Novel α-Galactosidase A 3′-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3′-End Formation

Yazar: Yasuda, Makiko, Shabbeer, Junaid, Osawa, Makiko, Desnick, Robert J.
Baskı/Yayın Bilgisi 2003

Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

Yazar: Germain, Dominique P., Shabbeer, Junaid, Cotigny, Sylvie, Desnick, Robert J.
Baskı/Yayın Bilgisi 2002

Warfarin Pharmacogenetics: CYP2C9 and VKORC1 Genotypes Predict Different Sensitivity and Resistance Frequencies in the Ashkenazi and Sephardi Jewish Populations

Yazar: Scott, Stuart A., Edelmann, Lisa, Kornreich, Ruth, Desnick, Robert J.
Baskı/Yayın Bilgisi 2008

Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes

Yazar: Bishop, David F, Clavero, Sonia, Mohandas, Narla, Desnick, Robert J
Baskı/Yayın Bilgisi 2011

Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

Yazar: Shabbeer, Junaid, Yasuda, Makiko, Benson, Stacy D, Desnick, Robert J
Baskı/Yayın Bilgisi 2006

Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria

Yazar: Bishop, David F, Tchaikovskii, Vassili, Nazarenko, Irina, Desnick, Robert J
Baskı/Yayın Bilgisi 2013

Animal Model Studies of Allelism: Characterization of Arylsulfatase B Mutations in Homoallelic and Heteroallelic (Genetic Compound) Homozygotes with Feline Mucopolysaccharidosis VI

Yazar: McGovern, Margaret M., Mandell, Nadine, Haskins, Mark, Desnick, Robert J.
Baskı/Yayın Bilgisi 1985

Type 1 Gaucher Disease: Significant disease manifestations in “asymptomatic” homozygotes identified by prenatal carrier screening

Yazar: Balwani, Manisha, Fuerstman, Laura, Kornreich, Ruth, Edelmann, Lisa, Desnick, Robert J.
Baskı/Yayın Bilgisi 2010

Characterization of the Porphobilinogen Deaminase Deficiency in Acute Intermittent Porphyria: IMMUNOLOGIC EVIDENCE FOR HETEROGENEITY OF THE GENETIC DEFECT

Yazar: Anderson, Peter M., Reddy, Raman M., Anderson, Karl E., Desnick, Robert J.
Baskı/Yayın Bilgisi 1981

Fabry Disease: Preclinical Studies Demonstrate the Effectiveness of α-Galactosidase A Replacement in Enzyme-Deficient Mice

Yazar: Ioannou, Yiannis A., Zeidner, Ken M., Gordon, Ronald E., Desnick, Robert J.
Baskı/Yayın Bilgisi 2001

Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups

Yazar: Scott, Stuart A, Khasawneh, Rame, Peter, Inga, Kornreich, Ruth, Desnick, Robert J
Baskı/Yayın Bilgisi 2010

Experiences and Concerns of Patients with Recurrent Attacks of Acute Hepatic Porphyria: A Qualitative Study

Yazar: Naik, Hetanshi, Stoecker, Mikayla, Sanderson, Saskia C., Balwani, Manisha, Desnick, Robert J.
Yayımlandı Mol Genet Metab (2016)