Wappner, Rebecca S.: search on Z-Library

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1

An artifact in the gas chromatographic analysis of urinary organic acids from phenylketonuric children: Decarboxylation of phenylpyruvic acid during extraction

Richard M. Thompson, Barbara G. Belanger, Rebecca S. Wappner, Ira K. Brandt

Journal:

Clinica Chimica Acta

Year:

1975

Language:

english

File:

PDF, 544 KB

english, 1975

2

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

Neal J Weinreb, Joel Charrow, Hans C Andersson, Paige Kaplan, Edwin H Kolodny, Pramod Mistry, Gregory Pastores, Barry E Rosenbloom, C.Ronald Scott, Rebecca S Wappner, Ari Zimran

Journal:

The American Journal of Medicine

Year:

2002

Language:

english

File:

PDF, 150 KB

english, 2002

3

A NEW VARIANT OF GALACTOSEMIA

Chacko, Claramma M, Brandt, Ira K, Wappner, Rebecca S, Nadler, Henry L

Journal:

Pediatric Research

Year:

1974

Language:

english

File:

PDF, 150 KB

english, 1974

4

Pyruvate carboxylase deficiency—insights from liver transplantation

William L Nyhan, Ajai Khanna, Bruce A Barshop, Robert K Naviaux, Andrew F Precht, Joel E Lavine, Marquis A Hart, Bryan E Hainline, Rebecca S Wappner, Sharon Nichols, Richard H Haas

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

5

Gaucher Disease

Charrow, Joel, Esplin, Joan A., Gribble, T. John, Kaplan, Paige, Kolodny, Edwin H., Pastores, Gregory M., Scott, C. Ronald, Wappner, Rebecca S., Weinreb, Neal J., Wisch, Jeffrey S.

Journal:

Archives of Internal Medicine

Year:

1998

Language:

english

File:

PDF, 95 KB

english, 1998

6

Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis

Hoffmann, Georg, Gibson, Kenneth M., Brandt, Ira K., Bader, Patricia I., Wappner, Rebecca S., Sweetman, Lawrence

Journal:

Boston Medical and Surgical Journal

Year:

1986

Language:

english

File:

PDF, 779 KB

english, 1986

7

Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations

Joel Charrow, Hans C. Andersson, Paige Kaplan, Edwin H. Kolodny, Pramod Mistry, Gregory Pastores, Ainu Prakash-Cheng, Barry E. Rosenbloom, C.Ronald Scott, Rebecca S. Wappner, Neal J. Weinreb

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 162 KB

english, 2004

8

Letter to the Editor: White Cell Ornithine Transcarbamylase Activity Cannot Detect the Liver Enzyme Deficiency

Snodgrass, Philip J, Wappner, Rebecca S, Brandt, Ira K

Journal:

Pediatric Research

Year:

1978

Language:

english

File:

PDF, 85 KB

english, 1978

9

540 A KERATAN AND HEPARAN SULFATURIA - A NEW MUCOPOLYSAC- CHARIDOSIS WITH N-ACETYLGLUCOSAMINE 6− SULFATASE DEFICIENCY

Matalon, Reuben, Horowitz, Allen, Wappner, Rebecca, Brandt, Ira, Deanching, Minerva, Rosenthal, Ira M

Journal:

Pediatric Research

Year:

1978

Language:

english

File:

PDF, 151 KB

english, 1978

10

Hurler Syndrome: α-L-Iduronidase Activity in Leukocytes as a Method for Heterozygote Detection

Wappner, Rebecca S, Brandt, Ira K

Journal:

Pediatric Research

Year:

1976

Language:

english

File:

PDF, 406 KB

english, 1976

11

The Gaucher Registry

Charrow, Joel, Andersson, Hans C., Kaplan, Paige, Kolodny, Edwin H., Mistry, Pramod, Pastores, Gregory, Rosenbloom, Barry E., Scott, C. Ronald, Wappner, Rebecca S., Weinreb, Neal J., Zimran, Ari

Journal:

Archives of Internal Medicine

Year:

2000

Language:

english

File:

PDF, 221 KB

english, 2000

12

Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase

Paige Kaplan, Alice Mazur, Orly Manor, Joel Charrow, Joan Esplin, T.John Gribble, Rebecca S. Wappner, Jeffrey S. Wisch, Neal J. Weinreb

Journal:

The Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 1015 KB

english, 1996

13

Lactation and Phenylketonuria

Bradburn, Niceta, Wappner, Rebecca, Lemons, James, Meyer, Betty, Roberts, Rebecca

Journal:

American Journal of Perinatology

Year:

1985

Language:

english

File:

PDF, 1.31 MB

english, 1985

14

PRENATAL DIAGNOSIS OF MITOCHONDRIAL FATTY ACID OXIDATION DEFECTS

MOHAMED A. NADA, CHRISTINE VIANEY-SABAN, CHARLES R. ROE, JIA-HUAN DING, MONIQUE MATHIEU, REBECCA S. WAPPNER, MARTIN G. BIALER, JULIE A. MCGLYNN, GINETTE MANDON

Journal:

Prenatal Diagnosis

Year:

1996

Language:

english

File:

PDF, 577 KB

english, 1996

15

The Chicago variant of clinical galactosemia

Claramma M. Chacko, Rebecca S. Wappner, Ira K. Brandt, Henry L. Nadler

Journal:

Year:

1977

Language:

english

File:

PDF, 538 KB

english, 1977

16

Erratum to “Pyruvate carboxylase deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]

William L. Nyhan, Ajai Khanna, Bruce A. Barshop, Robert K. Naviaux, Andrew F. Precht, Joel E. Levine, Marquis A. Hart, Bryan E. Hainline, Rebecca S. Wappner, Sharon Nichols, Richard D. Haas

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 79 KB

english, 2006

17

Individualization of long-term enzyme replacement therapy for Gaucher disease

Andersson, Hans C, Charrow, Joel, Kaplan, Paige, Mistry, Pramod, Pastores, Gregory M, Prakesh-Cheng, Ainu, Rosenbloom, Barry E, Scott, C Ronald, Wappner, Rebecca S, Weinreb, Neal J

Journal:

Genetics in Medicine

Year:

2005

Language:

english

File:

PDF, 409 KB

english, 2005

18

A residential camp for children with phenylketonuria

Roberts, Rebecca, Meyer, Betty A., Wappner, Rebecca S., Brandt, Ira K., Holland, Mary Ceil

Journal:

Topics in Clinical Nutrition

Year:

1987

File:

PDF, 237 KB

1987

19

Mevalonate Kinase in Lysates of Cultured Human Fibroblasts and Lymphoblasts: Kinetic Properties, Assay Conditions, Carrier Detection and Measurement of Residual Activity in a Patient with Mevalonic Aciduria

Gibson, Kenneth M., Lohr, Jamie L., Broock, Robyn L., Hoffmann, Georg, Nyhan, William L., Sweetman, Lawrence, Brandt, Ira K., Wappner, Rebecca S., Bader, Patricia I.

Journal:

Year:

1989

File:

PDF, 670 KB

1989

20

Peritoneal dialysis in the first 60 days of life

David E. Matthews, Karen W. West, Frederick J. Rescorla, Dennis W. Vane, Jay L. Grosfeld, Rebecca S. Wappner, Jerry Bergstein, Sharon Andreoli

Journal:

Journal of Pediatric Surgery

Year:

1990

Language:

english

File:

PDF, 2.69 MB

english, 1990

21

Mevalonate Kinase in Lysates of Cultured Human Fibroblasts and Lymphoblasts: Kinetic Properties, Assay Conditions, Carrier Detection and Measurement of Residual Activity in a Patient with Mevalonic Aciduria

Gibson, Kenneth M., Lohr, Jamie L., Broock, Robyn L., Hoffmann, Georg, Nyhan, William L., Sweetman, Lawrence, Brandt, Ira K., Wappner, Rebecca S., Bader, Patricia I.

Journal:

Year:

1989

Language:

english

File:

PDF, 670 KB

english, 1989

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