Inderneel Sahai : rechercher sur Z-Library

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1

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency

Anne Marie Comeau, Jaime E. Hale, Sung-Yun Pai, Francisco A. Bonilla, Luigi D. Notarangelo, Mark S. Pasternack, H. Cody Meissner, Ellen Rae Cooper, Alfred DeMaria, Inderneel Sahai, Roger B. Eaton

Journal:

Journal of Inherited Metabolic Disease

Année:

2010

Langue:

english

Fichier:

PDF, 169 KB

english, 2010

2

A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen

Inderneel Sahai, Joyce C. Bailey, Roger B. Eaton, Thomas Zytkovicz, David J. Harris

Journal:

The Journal of Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 87 KB

english, 2011

3

Newborn Screening

Sahai, Inderneel, Marsden, Deborah

Journal:

Critical Reviews in Clinical Laboratory Sciences

Année:

2009

Langue:

english

Fichier:

PDF, 936 KB

english, 2009

4

Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry: Experience of the Pilot Study in Andhra Pradesh, India

Inderneel Sahai, Thomas Zytkowicz, Srimannarayna Rao Kotthuri, Anantha Lakshmi Kotthuri, Roger B. Eaton, Radha Rama Devi Akella

Journal:

Indian Journal of Pediatrics

Année:

2011

Langue:

english

Fichier:

PDF, 148 KB

english, 2011

5

The increased incidence of congenital hypothyroidism: fact or fancy?

Marvin L. Mitchell, Ho-Wen Hsu, Inderneel Sahai, , the Massachusetts Pediatric Endocrine Work Group

Journal:

Clinical Endocrinology

Année:

2011

Langue:

english

Fichier:

PDF, 92 KB

english, 2011

6

Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

Anke K. Bergmann, Inderneel Sahai, Jill F. Falcone, Judy Fleming, Adam Bagg, Caterina Borgna-Pignati, Robin Casey, Luca Fabris, Elizabeth Hexner, Lulu Mathews, Maria Leticia Ribeiro, Klaas J. Wierenga

Journal:

The Journal of Pediatrics

Année:

2009

Langue:

english

Fichier:

PDF, 187 KB

english, 2009

7

Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening

Roman Yusupov, David N. Finegold, Edwin W. Naylor, Inderneel Sahai, Susan Waisbren, Harvey L. Levy

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 370 KB

english, 2010

8

Case 12-2011

Cabot, Richard C., Harris, Nancy Lee, Shepard, Jo-Anne O., Rosenberg, Eric S., Cort, Alice M., Ebeling, Sally H., Peters, Christine C., Fearing, Marsha Kay, Israel, Esther J., Sahai, Inderneel, Rapali

Journal:

Boston Medical and Surgical Journal

Année:

2011

Langue:

english

Fichier:

PDF, 960 KB

english, 2011

9

Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: A four-year summary by the New England newborn screening program

Zytkovicz, Thomas H., Sahai, Inderneel, Rush, Amii, Odewale, Adedoyin, Johnson, Donna, Fitzgerald, Eileen, Britton, Deborah, Eaton, Roger B.

Journal:

Clinical Biochemistry

Année:

2013

Langue:

english

Fichier:

PDF, 163 KB

english, 2013

10

Case 27-2014

Cabot, Richard C., Rosenberg, Eric S., Harris, Nancy Lee, Shepard, Jo-Anne O., Cort, Alice M., Ebeling, Sally H., McDonald, Emily K., Sahai, Inderneel, Mochida, Ganeshwaran H., Grabowski, Eric F., Car

Journal:

New England Journal of Medicine

Année:

2014

Langue:

english

Fichier:

PDF, 2.00 MB

english, 2014

11

Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Lin, Angela E., Traum, Avram Z., Sahai, Inderneel, Keppler-Noreuil, Kim, Kukolich, Mary K., Adam, Margaret P., Westra, Sjirk J., Arts, Heleen H.

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 1.97 MB

english, 2013

12

Changing perspectives in screening for congenital hypothyroidism and congenital adrenal hyperplasia

Mitchell, Marvin L., Hsu, Ho-Wen, Sahai, Inderneel

Journal:

Current Opinion in Endocrinology Diabetes and Obesity

Année:

2014

Langue:

english

Fichier:

PDF, 200 KB

english, 2014

13

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Fischer-Zirnsak, Björn, Escande-Beillard, Nathalie, Ganesh, Jaya, Tan, Yu Xuan, Al Bughaili, Mohammed, Lin, Angela E., Sahai, Inderneel, Bahena, Paulina, Reichert, Sara L., Loh, Abigail, Wright, Graha

Journal:

The American Journal of Human Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 2.14 MB

english, 2015

14

Acute Liver Failure and Reversible Leukoencephalopthy in a Pediatric Patient With Homocystinuria

Gupta, Punkaj, Goyal, Sunali, Grant, P Ellen, Fawaz, Rima, Lok, Josephine, Yager, Phoebe, Sharma, Amita, Sassower, Kenneth, Noviski, Natan, Browning, Marsha, Sahai, Inderneel

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Année:

2010

Langue:

english

Fichier:

PDF, 152 KB

english, 2010

15

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: Early experience in New England

Sahai, Inderneel, Eaton, Roger B., Hale, Jaime E., Mulcahy, Eleanor A., Comeau, Anne Marie

Journal:

Genetics in Medicine

Année:

2010

Langue:

english

Fichier:

PDF, 2.74 MB

english, 2010

16

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy

Gaier, Eric D., Sahai, Inderneel, Wiggs, Janey L., McGeeney, Brian, Hoffman, Jodi, Peeler, Crandall E.

Journal:

Ophthalmic Genetics

Année:

2020

Fichier:

PDF, 1.33 MB

2020

17

The reâoccurrence of cardiomyopathy in propionic acidemia after liver transplantation

Berry, Gerard T., Blume, Elizabeth D., Wessel, Ann, Singh, Tajinder, Hecht, Leah, Marsden, Deborah, Sahai, Inderneel, Elisofon, Scott, Ferguson, Michael, Kim, Heung Bae, Harris, David J., Demirbas, Di

Journal:

Année:

2020

Fichier:

PDF, 744 KB

2020

18

A retrospective study of adult patients with noncirrhotic hyperammonemia

Stergachis, Andrew B., Mogensen, Kris M., Khoury, Charbel C., Lin, Alexander P., Peake, Roy WA., Baker, Joshua J., Barkoudah, Ebrahim, Sahai, Inderneel, Sweetser, David A., Berry, Gerard T., Krier, Jo

Journal:

Journal of Inherited Metabolic Disease

Année:

2020

Fichier:

PDF, 1.82 MB

2020