Jess G. Thoene: search on Z-Library

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1

Small Molecule Therapy for Genetic Disease || The Office of Rare Diseases Research: Serving a coordinating function at the National Institutes of Health

Thoene, Jess G.

Year:

2010

File:

PDF, 137 KB

2010

2

Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary Biotin

Thoene, Jess, Baker, Herman, Yoshino, Makoto, Sweetman, Lawrence

Journal:

Boston Medical and Surgical Journal

Year:

1981

Language:

english

File:

PDF, 3.45 MB

english, 1981

3

Small Molecule Therapy for Genetic Disease || Biotin and biotin-responsive disorders

Thoene, Jess G.

Year:

2010

File:

PDF, 138 KB

2010

4

Citrullinemia

Julian Leibowitz, Jess Thoene, Elaine Spector, William Nyhan

Journal:

Virchows Archiv

Year:

1978

Language:

english

File:

PDF, 2.94 MB

english, 1978

5

A Comparison of the Effectiveness of Cysteamine and Phosphocysteamine in Elevating Plasma Cysteamine Concentration and Decreasing Leukocyte Free Cystine in Nephropathic Cystinosis

Smolin, Lori A, Clark, Karen F, Thoene, Jess G, Gahl, William A, Schneider, Jerry A

Journal:

Pediatric Research

Year:

1988

Language:

english

File:

PDF, 634 KB

english, 1988

6

Volatile carboxylic acid profiling in physiological fluids

Douglas N. Buchanan, Frank Bonasso, Jess G. Thoene

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1983

Language:

english

File:

PDF, 349 KB

english, 1983

7

A simple method for determination of plasma and urinary biotin

Rahul S. Sanghvi, Rosemary M. Lemons, Herman Baker, Jess G. Thoene

Journal:

Clinica Chimica Acta

Year:

1982

Language:

english

File:

PDF, 358 KB

english, 1982

8

A review of the role of enhanced apoptosis in the pathophysiology of cystinosis

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 499 KB

english, 2007

9

Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency

Quinonez, Shane C., Leber, Steven M., Martin, Donna M., Thoene, Jess G., Bedoyan, Jirair K.

Journal:

Pediatric Neurology

Year:

2013

Language:

english

File:

PDF, 394 KB

english, 2013

10

PHARMACOLOGY OF PANTETHINE IN NEPHROPATHIC CYSTINOSIS

Wittwer, Carl T, Thoene, Jess G

Journal:

Pediatric Research

Year:

1984

Language:

english

File:

PDF, 151 KB

english, 1984

11

Small Molecule Therapy for Genetic Disease || Plates section

Thoene, Jess G.

Year:

2010

File:

PDF, 2.05 MB

2010

12

134. Correction of cystine storage in cystinotic fibroblasts by recombinant cystinosin

Jess Thoene, Marc Witcher

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

13

Ex Vivo Gene Therapy of Familial Hypercholesterolemia. Howard Hughes Medical Institute, University of Michigan

Wilson, James M., Grossman, Mariann, Raper, Steven E., Baker, James R., Newton, Roger S., Thoene, Jess G.

Journal:

Human Gene Therapy

Year:

1992

File:

PDF, 8.99 MB

1992

14

CYCLOHEXIMIDE INHIBITS LYSOSOMAL PROTEOLYSIS OF ENDOGENOUS BUT NOT EXOGENOUS PROTEINS

Thoene, Jess G, Lemons, Rosemary

Journal:

Pediatric Research

Year:

1984

File:

PDF, 132 KB

1984

15

CONGENITAL CMV INFECTION PRESENTING AS TYROSINEMIA

Thoene, Jess G, Sweetman, Lawrence, Nyhan, William L, Shafai, Touraj

Journal:

Pediatric Research

Year:

1977

Language:

english

File:

PDF, 138 KB

english, 1977

16

Cystine Depletion of Cystinotic Cells by Aminothiols

Thoene, Jess G, Oshima, Robert G, Crawhall, John C, Schneider, Jerry A

Journal:

Proceedings of the Royal Society of Medicine

Year:

1977

File:

PDF, 536 KB

1977

17

Renal cell culture using autopsy material from children with cystinosis

Ocean L. Pellett, Margaret L. Smith, Smith Jess G. Thoene, Jerry A. Schneider, Adam J. Jonas

Journal:

In Vitro Cellular & Developmental Biology - Plant

Year:

1984

Language:

english

File:

PDF, 855 KB

english, 1984

18

Elevated temperature produces cystine depletion in cystinotic fibroblasts

Lemons, Rosemary M., Pisoni, Ronald L., Christensen, Halvor N., Thoene, Jess G.

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

1986

Language:

english

File:

PDF, 735 KB

english, 1986

19

Modulation of the Intracellular Cystine Content of Cystinotic Fibroblasts by Extracellular Albumin

Thoene, Jess G, Lemons, Rosemary

Journal:

Pediatric Research

Year:

1980

Language:

english

File:

PDF, 340 KB

english, 1980

20

Impaired Intestinal Absorption of Biotin in Juvenile Multiple Carboxylase Deficiency

Thoene, Jess G., Lemons, Rosemary, Baker, Herman

Journal:

Boston Medical and Surgical Journal

Year:

1983

Language:

english

File:

PDF, 642 KB

english, 1983

21

Current status of orphan disease drug development

Thoene, Jess G.

Journal:

Current Opinion in Pediatrics

Year:

1994

File:

PDF, 374 KB

1994

22

Genetic/metabolic health care delivery during and after hurricanes Katrina and Rita

Hans C. Andersson, T.C. Narumanchi, Amy Cunningham, Bruce Bowdish, Jess Thoene

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 103 KB

english, 2006

23

Renal failure in a sibship with late-onset cystinosis

Craig B. Langman, Eddie S. Moore, Jess G. Thoene, Jerry A. Schneider

Journal:

The Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 189 KB

english, 1985

24

Conclusions to the Supplement, “Extra-Renal Complications of Cystinosis”

Thoene, Jess G.

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 259 KB

english, 2017

25

Positive-ion thermospray liquid chromatography—mass spectrometry: detection of organic acidurias

Douglas N. Buchanan, Joseph Muenzer, Jess G. Thoene

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1990

Language:

english

File:

PDF, 620 KB

english, 1990

26

CTNS Mutations in African American Patients with Cystinosis

Robert Kleta, Yair Anikster, Cynthia Lucero, Vorasuk Shotelersuk, Marjan Huizing, Isa Bernardini, Margaret Park, Jess Thoene, Jerry Schneider, William A. Gahl

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 282 KB

english, 2001

27

Renal Cell Culture Using Autopsy Material from Children with Cystinosis

Ocean L. Pellett, Margaret L. Smith, Jess G. Thoene, Jerry A. Schneider and Adam J. Jonas

Journal:

Year:

1984

Language:

english

File:

PDF, 399 KB

english, 1984

28

CYSTINOTIC FIBROBLASTS ACCUMULATE CYSTINE FROM INTRACELLULAR PROTEIN CATABOLISM

Thoene, Jess G, Ritchie, David G, Oshima, Robert G, Schneider, Jerry A

Journal:

Pediatric Research

Year:

1977

Language:

english

File:

PDF, 157 KB

english, 1977

29

FURTHER CHARACTERIZATION OF LYSOSOMAL SYSTEM y+

Pisoni, Ronald L, Thoene, Jess G, Lemons, Rosemary M, Christensen, Halvor N

Journal:

Pediatric Research

Year:

1987

Language:

english

File:

PDF, 156 KB

english, 1987

30

Pantethine lipomodulation: evidence for cysteamine mediation in vitro and in vivo

Carl T. Wittwer, Caran P. Graves, Matt A. Peterson, Eric Jorgensen, Dana E. Wilson, Jess G. Thoene, Bonita W. Wyse, Carol T. Windham, R. Gaurth Hansen

Journal:

Atherosclerosis

Year:

1987

Language:

english

File:

PDF, 900 KB

english, 1987

31

Hepatotoxicity of cysteamine?

William A. Gahl, Joseph D. Schulman, Jess G. Thoene, Jerry Schneider

Journal:

The Journal of Pediatrics

Year:

1983

Language:

english

File:

PDF, 189 KB

english, 1983

32

Cysteamine Therapy for Children with Nephropathic Cystinosis

Gahl, William A., Reed, George F., Thoene, Jess G., Schulman, Joseph D., Rizzo, William B., Jonas, Adam J., Denman, Daniel W., Schlesselman, James J., Corden, Brian J., Schneider, Jerry A.

Journal:

Boston Medical and Surgical Journal

Year:

1987

Language:

english

File:

PDF, 1.23 MB

english, 1987

33

817 PREVENTION OF NEONATAL HYPERAMMONEMIA IN CITRULLINEMIA

Donn, Steven M, Thoene, Jess G, Wilson, Golder N

Journal:

Pediatric Research

Year:

1985

Language:

english

File:

PDF, 157 KB

english, 1985

34

The redox status of cystinotic fibroblasts

Victor Vitvitsky, Marc Witcher, Ruma Banerjee, Jess Thoene

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 378 KB

english, 2010

35

Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes

Amanda Helip-Wooley, Jess G Thoene

Journal:

Experimental Cell Research

Year:

2004

Language:

english

File:

PDF, 791 KB

english, 2004

36

Comparison of exchange transfusion, peritoneal dialysis, and hemodialysis for the treatment of hyperammonemia in an anuric newborn infant

Steven M. Donn, Richard D. Swartz, Jess G. Thoene

Journal:

The Journal of Pediatrics

Year:

1979

Language:

english

File:

PDF, 366 KB

english, 1979

37

Small Molecule Therapy for Genetic Disease || Cysteamine treatment of nephropathic cystinosis

Thoene, Jess G.

Year:

2010

Language:

english

File:

PDF, 340 KB

english, 2010

38

Microvesicle delivery of a lysosomal transport protein to ex vivo rabbit cornea

Thoene, Jess G., DelMonte, Monte A., Mullet, Jodi

Journal:

Molecular Genetics and Metabolism Reports

Year:

2020

File:

PDF, 1.06 MB

2020

39

The role of pinocytosis in the cellular uptake of an amino acid

Jess G. Thoene, Susan Forster, John B. Lloyd

Journal:

Biochemical and Biophysical Research Communications

Year:

1985

Language:

english

File:

PDF, 258 KB

english, 1985

40

Suppression of granulopoietic progenitor cell proliferation by metabolites of the branched-chain amino acids

Raymond J. Hutchinson, Kirsten Bunnell, Jess G. Thoene

Journal:

The Journal of Pediatrics

Year:

1985

Language:

english

File:

PDF, 287 KB

english, 1985

41

Treatment of urea cycle disorders

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 104 KB

english, 1999

42

Characterization of Cysteamine as a Potential Contraceptive Anti-HIV Agent

Dr. ROBERT A. ANDERSON JR., KENNETH FEATHERGILL, RISA KIRKPATRICK, LOURENS J. D. ZANEVELD, KEVIN T. COLEMAN, PATRICIA G. SPEAR, MORRIS D. COOPER, DONALD P. WALLER, JESS G. THOENE

Journal:

Journal of Andrology

Year:

1998

Language:

english

File:

PDF, 2.56 MB

english, 1998

43

Small Molecule Therapy for Genetic Disease || Betaine treatment for the homocystinurias

Thoene, Jess G.

Year:

2010

Language:

english

File:

PDF, 121 KB

english, 2010

44

Course of nephropathic cystinosis after age 10 years

William A. Gahl, Jerry A. Schneider, Jess G. Thoene, Russell Chesney

Journal:

The Journal of Pediatrics

Year:

1986

Language:

english

File:

PDF, 273 KB

english, 1986

45

566 PROPIONICACIDEMIA PRESENTING AS HYPERAMMONEMIA

Thoene, Jess G, Sweetman, Lawrence, Schmickel, Roy D

Journal:

Pediatric Research

Year:

1978

Language:

english

File:

PDF, 152 KB

english, 1978

46

Protein microinjection by protease permeabilization of fibroblasts

Rosemary Lemons, Susan Forster, Jess Thoene

Journal:

Analytical Biochemistry

Year:

1988

Language:

english

File:

PDF, 2.65 MB

english, 1988

47

No effects of human ghrelin on cardiac function despite profound effects on body composition in a rat model of heart failure

Yoshihiro J. Akashi, Sandra Palus, Rakesh Datta, Heather Halem, John E. Taylor, Christa Thoene-Reineke, Jesse Dong, Thomas Thum, Michael D. Culler, Stefan D. Anker, Jochen Springer

Journal:

International Journal of Cardiology

Year:

2009

Language:

english

File:

PDF, 330 KB

english, 2009

48

Cystine accumulation in cystinotic fibroblasts from free and protein-linked cystine but not cysteine

Thoene, Jess G., Lemons, Rosemary M.

Journal:

Biochemical Journal

Year:

1982

Language:

english

File:

PDF, 991 KB

english, 1982

49

EFFECTIVENESS OF EARLY ARGININE (ARG) THERAPY IN ARGININOSUCCINIC ACIDURIA (ASA)

Donn, Steven M, Thoene, Jess G

Journal:

Pediatric Research

Year:

1984

Language:

english

File:

PDF, 159 KB

english, 1984

50

Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts

Ronald L. Pisoni, Rosemary M. Lemons, Karen M. Paelicke, Jess G. Thoene

Journal:

Somatic Cell and Molecular Genetics

Year:

1992

Language:

english

File:

PDF, 597 KB

english, 1992

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