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1

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

Linda Tyfield, Juergen Reichardt, Judy Fridovich-Keil, David T. Croke, Louis J. Elsas II, Wolfgang Strobl, Libor Kozak, Turgay Coskun, Giuseppe Novelli, Yoshiyuki Okano, Cezary Zekanowski, Yoon Shin,

Journal:

Year:

1999

Language:

english

File:

PDF, 763 KB

english, 1999

2

The Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts

Kent Lai, Sharon D. Langley, Philip P. Dembure, Lawrence N. Hjelm, Louis J. Elsas II

Journal:

Year:

1998

Language:

english

File:

PDF, 344 KB

english, 1998

3

Position statement on interphase in situ hybridization prenatal diagnosis

Dr. Herbert A. Lubs, Louis J. Elsas II, Avirachan T. Tharapel, Philip D. Buchanan, Wayne H. Finley, Carmen B. Lozzio, Mary Z. Pelias

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 91 KB

english, 1993

4

Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes

Huiquan Zhao, Laurie A. Bailey, Louis J. Elsas II, Karen A. Grinzaid, Gregory A. Grabowski

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 72 KB

english, 2003

5

Impact of a Camp Experience on Phenylalanine Levels, Knowledge, Attitudes, and Health Beliefs Relevant to Nutrition Management of Phenylketonuria in Adolescent Girls

RANI H SINGH, JULIE A KABLE, NICOLE V GUERRERO, KEVIN M SULLIVAN, LOUIS J ELSAS II

Journal:

Journal of the American Dietetic Association

Year:

2000

File:

PDF, 778 KB

2000

6

Stabilization of mammalian liver branched-chain α-ketoacid dehydrogenase by thiamin pyrophosphate

Dean J. Danner, Sandra K. Lemmon, Louis J. Elsas II

Journal:

Archives of Biochemistry and Biophysics

Year:

1980

Language:

english

File:

PDF, 530 KB

english, 1980

7

Hexose transport and phosphorylation by hamster kidney cortex slices and everted jejunal rings

Louis J. Elsas II, Robert C. MacDonell Jr.

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Year:

1972

Language:

english

File:

PDF, 713 KB

english, 1972

8

Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency

Yoichi Matsubara, Kuniaki Narisawa, Shigeaki Miyabayashi, Keiya Tada, Paul M. Coates, Claude Bachmann, Louis J. Elsas II, Rodney J. Pollitt, William J. Rhead, Charles R. Roe

Journal:

Biochemical and Biophysical Research Communications

Year:

1990

Language:

english

File:

PDF, 706 KB

english, 1990

9

Subcellular distribution and cofactor function of human branched chain α-ketoacid dehydrogenase in normal and mutant cultured skin fibroblasts

Dean J. Danner, Louis J. Elsas II

Journal:

Biochemical Medicine

Year:

1975

Language:

english

File:

PDF, 1001 KB

english, 1975

10

Substrate specificity and stabilization by thiamine pyrophosphate of rat liver branched chain α-ketoacid dehydrogenase

Dean J. Danner, Sandra Katz Lemmon, Louis J. Elsas II

Journal:

Biochemical Medicine

Year:

1978

Language:

english

File:

PDF, 728 KB

english, 1978

11

Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders

James B. Gibson, Robert A. Reynolds, Michael J. Palmieri, Gerard T. Berry, Louis J. Elsas II, Harvey L. Levy, Stanton Segal

Journal:

Year:

1995

Language:

english

File:

PDF, 866 KB

english, 1995

12

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia

Michael Palmieri, Alice Mazur, Gerard T. Berry, Cong Ning, Suzanne Wehrli, Claire Yager, Robert Reynolds, Rani Singh, Kasinathan Muralidharan, Sharon Langley, Louis Elsas II, Stanton Segal

Journal:

Year:

1999

Language:

english

File:

PDF, 800 KB

english, 1999

13

Risk factors for premature ovarian failure in females with galactosemia

Nicole V. Guerrero, Rani H. Singh, Amita Manatunga, Gerard T. Berry, Robert D. Steiner, Louis J. Elsas II

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 97 KB

english, 2000

14

US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)

Kenneth A. Pass, Peter A. Lane, Paul M. Fernhoff, Cynthia F. Hinton, Susan R. Panny, John S. Parks, Mary Z. Pelias, William J. Rhead, Sonya I. Ross, Doris L. Wethers, Louis J. Elsas II

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 342 KB

english, 2000

15

Familial glucose-galactose malabsorption: Remission of glucose intolerance

Louis J. Elsas II, Dwight W. Lambe Jr.

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 532 KB

english, 1973

16

Acute and Chronic-Intermittent Isovaleric Acidemia: Diagnosis and Glycine Therapy

Louis J. Elsas II, Mary Naglak

Journal:

Pediatrics International

Year:

1988

Language:

english

File:

PDF, 634 KB

english, 1988

17

THE ROLE OF THIAMIN IN MAPLE SYRUP URINE DISEASE

Louis J. Elsas II, Dean J. Danner

Journal:

Annals of the New York Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 931 KB

english, 1982

18

Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid response

Louis J. Elsas II, Robert L. Miller, Sheldon R. Pinnell

Journal:

The Journal of Pediatrics

Year:

1978

Language:

english

File:

PDF, 1.01 MB

english, 1978

19

Human Genetics

Review by: Louis J. Elsas, II

Journal:

Year:

1981

Language:

english

File:

PDF, 116 KB

english, 1981