Debra S. Regier: search on Z-Library

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1

The biochemical village: How it can flourish and thrive

Regier, Debra S.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 140 KB

2020

2

Failure to thrive in children with mitochondrial diseases

Wolfe, Lynne A., Regier, Debra, Saneto, Russell, Parikh, Sumit, Goldstein, Amy, Boerkorl, Neal

Journal:

Year:

2013

Language:

english

File:

PDF, 50 KB

english, 2013

3

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis

Regier, Debra S., Kwon, Hyuk Joon, Johnston, Jean, Golas, Gretchen, Yang, Sandra, Wiggs, Edythe, Latour, Yvonne, Thomas, Sarah, Portner, Cindy, Adams, David, Vezina, Gilbert, Baker, Eva H., Tifft, Cyn

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 963 KB

english, 2016

4

The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention

Ferreira, Carlos R., Regier, Debra S., Yoon, Robin, Pan, Kristen S., Johnston, Jean M., Yang, Sandra, Spranger, Jürgen W., Tifft, Cynthia J.

Journal:

Year:

2019

Language:

english

File:

PDF, 4.43 MB

english, 2019

5

A pandemic will not stop metabolic innovation

MacLeod, Erin, Starin, Danielle, Ah Mew, Nicholas, Regier, Debra S.

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 138 KB

2020

6

Brain MRI in patients with GM1 gangliosidosis, type II: novel scoring system correlates with disease progression and severity

Tifft, Cynthia J., Kwon, H.J., Regier, Debra S., Golas, Gretchen A., Johnston, Jean M., Yang, Sandra, Baker, Eva H., Vezina, L.G.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 71 KB

english, 2014

7

Editorial Board

Tifft, Cynthia J., Kwon, H.J., Regier, Debra S., Golas, Gretchen A., Johnston, Jean M., Yang, Sandra, Baker, Eva H., Vezina, L.G.

Journal:

Journal of Dairy Science

Year:

1929

File:

PDF, 32 KB

1929

8

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

Raval, Donna B., Cusmano-Ozog, Kristina P., Ayyub, Omar, Jenevein, Callie, Kofman, Laura H., Lanpher, Brendan, Hauser, Natalie, Regier, Debra S.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 235 KB

english, 2017

9

How do i treat when there is no treatment?

Regier, Debra S., Hallie Andrew, E., Bloom, Miriam, Fisher, Deborah

Journal:

Translational Science of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 69 KB

english, 2019

10

A novel protein kinase target for the lipid second messenger phosphatidic acid

Linda C. McPhail, Kristin A. Waite, Debra S. Regier, Jennifer B. Nixon, Diane Qualliotine-Mann, Wen-Xiao Zhang, Reidar Wallin, Susan Sergeant

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids

Year:

1999

Language:

english

File:

PDF, 499 KB

english, 1999

11

Case 5: Acute Vomiting and Hallucinations in a 5-year-old Vegan Girl

Magida Farrell, Leslie, Kalburgi, Sonal, McGarry-Hansen, Michelle, Regier, Debra S.

Journal:

Pediatrics in Review

Year:

2017

Language:

english

File:

PDF, 976 KB

english, 2017

12

Diacylglycerol kinases

Bai Luo, Debra S Regier, Stephen M Prescott, Matthew K Topham

Journal:

Cellular Signalling

Year:

2004

Language:

english

File:

PDF, 207 KB

english, 2004

13

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations

Bosfield, Kerri, Regier, Debra S., Viall, Sarah, Hicks, Rebecca, Shur, Natasha, Grant, Christina L.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.08 MB

2020

14

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

Chapel-Crespo, Cristel, Gavrilov, Dimitar, Sowa, Mary, Myers, Jessica, Day-Salvatore, Debra-Lynn, Lynn, Haley, Regier, Debra, Starin, Danielle, Steenari, Maija, Schoonderwoerd, Kees, Abdenur, Jose E.

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 595 KB

english, 2019

15

Assessment of Thyroid Function in Patients With Alkaptonuria

Avadhanula, Shirisha, Introne, Wendy J., Auh, Sungyoung, Soldin, Steven J., Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando C., Burman, Kenneth D., Klubo-Gwiezdzinsk

Journal:

JAMA Network Open

Year:

2020

File:

PDF, 984 KB

2020

16

Genetics

Regier, Debra S., Hart, Thomas C.

Journal:

Dental Clinics of North America

Year:

2016

Language:

english

File:

PDF, 348 KB

english, 2016

17

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model

Gray-Edwards, Heather L., Regier, Debra S., Shirley, Jamie L., Randle, Ashley N., Salibi, Nouha, Thomas, Sarah E., Latour, Yvonne L., Johnston, Jean, Golas, Gretchen, Maguire, Annie S., Taylor, Amanda

Journal:

Molecular Therapy

Year:

2017

Language:

english

File:

PDF, 2.69 MB

english, 2017

18

Role of elosulfase alfa in mucopolysaccharidosis IVA

Regier, Debra, Tanpaiboon, Pranoot

Journal:

The Application of Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 138 KB

english, 2016

19

Medical genetics education in the midst of the COVID â19 pandemic: Shared resources

Regier, Debra S., Smith, Wendy E., Byers, Heather M.

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 971 KB

2020

20

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15

Regier, Debra S., Leon, Eyby, Counts, Debra R., Tifft, Cynthia J., Zand, Dina J.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 282 KB

english, 2015

21

Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease

Ferreira, Carlos R., Regier, Debra S., Hadley, Donald W., Hart, P. Suzanne, Muenke, Maximilian

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 289 KB

english, 2017

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