Annette S.J. Feigenbaum: search on Z-Library

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1

The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study

Karaceper, Maria D., Chakraborty, Pranesh, Coyle, Doug, Wilson, Kumanan, Kronick, Jonathan B., Hawken, Steven, Davies, Christine, Brownell, Marni, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne B.,

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 617 KB

english, 2016

2

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

Shaag, Avraham, Saada, Ann, Berger, Itai, Mandel, Hanna, Joseph, Adina, Feigenbaum, Annette, Elpeleg, Orly N.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 371 KB

english, 1999

3

28. Neurological phenotype is the key predictor of long-term outcome in mitochondrial DNA depletion resulting from deoxyguanosine kinase deficiency

David P. Dimmock, J. Kay Dunn, Annette Feigenbaum, Tony Rupar, Rita Horvath, Peter Freisinger, Bénédicte Mousson de Camaret, Lee-Jun Wong, Fernando Scaglia

Journal:

Year:

2009

Language:

english

File:

PDF, 55 KB

english, 2009

4

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Karaceper, Maria D., Khangura, Sara D., Wilson, Kumanan, Coyle, Doug, Brownell, Marni, Davies, Christine, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne B., Grosse, Scott D., Guttmann, Astrid, Hawk

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

Language:

english

File:

PDF, 959 KB

english, 2019

5

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada

Roscher, Anne, Patel, Jaina, Hewson, Stacy, Nagy, Laura, Feigenbaum, Annette, Kronick, Jonathan, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, Mercimek-Mahmutoglu, Saadet

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 298 KB

english, 2014

6

Design and implementation of the first randomized controlled trial of coenzyme Q10 in children with primary mitochondrial diseases

Peter W. Stacpoole, Ton.J. deGrauw, Annette S. Feigenbaum, Charles Hoppel, Douglas S. Kerr, Shawn E. McCandless, Michael V. Miles, Brian H. Robinson, Peter H. Tang

Journal:

Year:

2012

Language:

english

File:

PDF, 251 KB

english, 2012

7

Corrigendum to ‘Design and Implementation of the First Randomized Controlled Trial of Coenzyme Q10 in Children with Primary Mitochondrial Diseases’ [Mitochondrion 12/6 (2012) 623–629]

Stacpoole, Peter W., deGrauw, Ton J., Feigenbaum, Annette S., Hoppel, Charles, Kerr, Douglas S., McCandless, Shawn E., Miles, Michael V., Robinson, Brian H., Tang, Peter H.

Journal:

Year:

2013

Language:

english

File:

PDF, 145 KB

english, 2013

8

Phospholipid abnormalities in children with Barth syndrome

Michael Schlame, Richard I Kelley, Annette Feigenbaum, Jeffrey A Towbin, Paul M Heerdt, Thomas Schieble, Ronald J.A Wanders, Salvatore DiMauro, Thomas J.J Blanck

Journal:

Journal of the American College of Cardiology

Year:

2003

Language:

english

File:

PDF, 105 KB

english, 2003

9

Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework

McGlaughon, Jennifer L., Pasquali, Marzia, Wallace, Kathleen, Ross, Justyne, Senol-Cosar, Ozlem, Shen, Wei, Weaver, Meredith A., Feigenbaum, Annette, Lyon, Elaine, Enns, Gregory M., Mao, Rong, Baudet,

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 829 KB

english, 2019

10

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation

Barbara S. Connolly, Annette S.J. Feigenbaum, Brian H. Robinson, Anne I. Dipchand, David K. Simon, Mark A. Tarnopolsky

Journal:

Biochemical and Biophysical Research Communications

Year:

2010

Language:

english

File:

PDF, 232 KB

english, 2010

11

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

Karaceper, Maria D., Khangura, Sara D., Wilson, Kumanan, Coyle, Doug, Brownell, Marni, Davies, Christine, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne B., Grosse, Scott D., Guttmann, Astrid, Hawk

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 959 KB

2019

12

A neuroimaging approach to inborn errors of metabolism

Blaser, Susan, Feigenbaum, Annette

Journal:

Neuroimaging Clinics of North America

Year:

2004

Language:

english

File:

PDF, 1.31 MB

english, 2004

13

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

David P. Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, Gregory M. Rice, Jon A. Wolff, William E. O'

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 68 KB

english, 2008

14

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

Andrea A. Guerin, Annette Feigenbaum, Elizabeth J. Donner, Grace Yoon

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 62 KB

english, 2008

15

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L Levy, Andrzej Milanowski, Anupam Chakrapani, Maureen Cleary, Philip Lee, Friedrich K Trefz, Chester B Whitley, François Feillet, Annette S Feigenbaum, Judith D Bebchuk, Heidi Christ-Schmidt,

Journal:

Year:

2007

Language:

english

File:

PDF, 165 KB

english, 2007

16

Amerindian Pyruvate Carboxylase Deficiency Is Associated with Two Distinct Missense Mutations

Mary Anna Carbone, Nevi MacKay, Mingfu Ling, David E.C. Cole, Cheryl Douglas, Brigitte Rigat, Annette Feigenbaum, Joe T.R. Clarke, James C. Haworth, Cheryl R. Greenberg, Lorne Seargeant, Brian H. Robi

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 415 KB

english, 1998

17

The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature

Miller, Garfield L., Somani, Sohel, Nowaczyk, Malgorzata J. M., Feigenbaum, Annette, Davidson, Ronald G., Costa, Teresa, Levin, Alex V.

Journal:

Ophthalmic Genetics

Year:

2006

Language:

english

File:

PDF, 1.09 MB

english, 2006

18

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Schwahn, Bernd C., Scheffner, Thomas, Stepman, Hedwig, Verloo, Peter, Das, Anibh M, Fletcher, Janice, Blom, Henk J, Benoist, JeanâFrancois, Barshop, Bruce A., Barea, Jaime J., Feigenbaum, Annette

Journal:

Year:

2020

File:

PDF, 952 KB

2020

19

Mitochondrial DNA depletion and dGK gene mutations

Leonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso, David Otaegui, Pilar Camaño, Alberto Marina, Simon Rabinowitz, Rebecca Shiffman, Karen Thompson, Claire M. Wilson, Annette Feigenbaum, Ali B.

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 1.04 MB

english, 2002

20

Homozygosity for the common Ashkenazi Jewish Tay-Sachs +1 IVS-12 splice-junction mutation: First report

Paula Strasberg, Irene Warren, Marie-Anne Skomorowski, Annette Feigenbaum

Journal:

Year:

1997

Language:

english

File:

PDF, 88 KB

english, 1997

21

Extreme aminotransferase elevation following the onset of treatment in female carriers of ornithine transcarbamylase deficiency

Sylvester, Francisco A., Hyams, Jeffrey S., Greenstein, Robert, Abbott, Mary A., Feigenbaum, Annette

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 260 KB

english, 2003

22

Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy

Longo, Nicola, Siriwardena, Komudi, Feigenbaum, Annette, Dimmock, David, Burton, Barbara K., Stockler, Sylvia, Waisbren, Susan, Lang, William, Jurecki, Elaina, Zhang, Charlie, Prasad, Suyash

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 2.21 MB

english, 2015

23

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy

Scaglia, Fernando, Hsu, Chang-Hung, Kwon, Haeyoung, Bai, Ren-Kui, Perng, Cherng-Lih, Chang, Hua-Mei, Dai, Pu, Smith, E O'brian, Whiteman, David A H, Feigenbaum, Annette, Gropman, Andrea, Wong, Lee-Jun

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 348 KB

english, 2006

24

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features

Arie Koifman, Annette Feigenbaum, Weimin Bi, Lisa G. Shaffer, Jill Rosenfeld, Susan Blaser, David Chitayat

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 213 KB

english, 2010

25

The molecular basis of Tay-Sachs disease: Mutation identification and diagnosis

Don J. Mahuran, Barbara L. Triggs-Raine, Annette J. Feigenbaum, Roy A. Gravel

Journal:

Clinical Biochemistry

Year:

1990

Language:

english

File:

PDF, 777 KB

english, 1990

26

A Novel Syndrome Affecting Multiple Mitochondrial Functions, Located by Microcell-Mediated Transfer to Chromosome 2p14-2p13

Agnieszka Seyda, Robert F. Newbold, Thomas J. Hudson, Andrei Verner, Neviana MacKay, Susan Winter, Annette Feigenbaum, Suzann Malaney, Diego Gonzalez-Halphen, Andrew P. Cuthbert, Brian H. Robinson

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 322 KB

english, 2001

27

Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

Potter, Beth K., Chakraborty, Pranesh, Kronick, Jonathan B., Wilson, Kumanan, Coyle, Doug, Feigenbaum, Annette, Geraghty, Michael T., Karaceper, Maria D., Little, Julian, Mhanni, Aizeddin, Mitchell, J

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 467 KB

english, 2013

28

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Jennifer Seminara, Mendel Tuchman, Lauren Krivitzky, Jeffrey Krischer, Hye-Seung Lee, Cynthia LeMons, Matthias Baumgartner, Stephen Cederbaum, George A. Diaz, Annette Feigenbaum, Renata C. Gallagher,

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 577 KB

english, 2010

29

Singleton-Merten syndrome: An autosomal dominant disorder with variable expression

Feigenbaum, Annette, Müller, Christine, Yale, Christopher, Kleinheinz, Johannes, Jezewski, Peter, Kehl, Hans Gerd, MacDougall, Mary, Rutsch, Frank, Hennekam, Raoul C.M.

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 412 KB

english, 2013

30

Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate

Nagamani, Sandesh C., Diaz, George A., Rhead, William J., Berry, Sue A., Le Mons, Cindy, Lichter-Konecki, Uta, Bartley, James A., Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, Willia

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

31

The epidemiology and health service impact of medium-chain acyl-CoA dehydrogenase deficiency among affected children and those with false positive newborn screening results in Ontario

Karaceper, Maria D., Brownell, Marni, Casey, Robin, Chakraborty, Pranesh, Coyle, Doug, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne, Grosse, Scott, Guttmann, Astrid, Laberge, Anne-Marie, Mhanni,

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 140 KB

english, 2014

32

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate

Marjo S. Van Der Knaap, Patrick Van Der Voorn, Frederik Barkhof, Rudy Van Coster, Ingeborg Krägeloh-Mann, Annette Feigenbaum, Susan Blaser, Johan S. H. Vles, Peter Rieckmann, Petra J. W. Pouwels

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 1.25 MB

english, 2003

33

Metabolic clinic atlas: Organization of care for pediatric metabolic patients in Canada

Kronick, Jonathan B., Hernandez, Monica, Tingley, Kylie, Potter, Beth K., Chan, Alicia K.J., Coyle, Doug, Dodds, Linda, Dyack, Sarah, Feigenbaum, Annette, Geraghty, Michael T., Gillis, Jane, Rockman-G

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

34

Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews

Triggs-Raine, Barbara L., Feigenbaum, Annette S.J., Natowicz, Marvin, Skomorowski, Marie-Anne, Schuster, Sheldon M., Clarke, Joe T.R., Mahuran, Don J., Kolodny, Edwin H., Gravel, Roy A.

Journal:

Boston Medical and Surgical Journal

Year:

1990

Language:

english

File:

PDF, 1.17 MB

english, 1990

35

A REDCap database to support longitudinal follow-up of pediatric patients with inborn errors of metabolism

Hernandez, Monica, Chakraborty, Pranesh, Kronick, Jonathan B., Potter, Beth K., Chan, Alicia K.J., Coyle, Doug, Dyack, Sarah, Feigenbaum, Annette, Geraghty, Michael T., Karaceper, Maria, Khan, Aneal,

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

36

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome

Cameron, Jessie M., MacKay, Nevena, Feigenbaum, Annette, Tarnopolsky, Mark, Blaser, Susan, Robinson, Brian H., Schulze, Andreas

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 873 KB

english, 2015

37

Human Sulfite Oxidase R160Q: Identification of the Mutation in a Sulfite Oxidase-Deficient Patient and Expression and Characterization of the Mutant Enzyme

Robert M. Garrett, Jean L. Johnson, Tyler N. Graf, Annette Feigenbaum and K. V. Rajagopalan

Journal:

Proceedings of the National Academy of Sciences

Year:

1998

Language:

english

File:

PDF, 1.11 MB

english, 1998

38

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

Jennifer Johnston, Richard I. Kelley, Annette Feigenbaum, Gerald F. Cox, Geeta S. Iyer, Vicky L. Funanage, Roy Proujansky

Journal:

The American Journal of Human Genetics

Year:

1997

Language:

english

File:

PDF, 239 KB

english, 1997

39

Vitamin B12 deficiency in adolescents and young adults with phenylketonuria

WilliamB. Hanley, Annette Feigenbaum, JoeT.R. Clarke, Wanda Schoonheyt, Valerie Austin

Journal:

Year:

1993

Language:

english

File:

PDF, 171 KB

english, 1993

40

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A., Le Mons, Cindy, Bartley, James A., Longo, Nicola, Nagamani, Sandesh C., Berquist, William, Ga

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 1.30 MB

english, 2015

41

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Christina Gerth, Chantal F. Morel, Annette Feigenbaum, Alex V. Levin

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2008

Language:

english

File:

PDF, 743 KB

english, 2008

42

Arginase I deficiency: Severe infantile presentation with hyperammonemia: More common than reported?

Shailly Jain-Ghai, Sandesh C. Sreenath Nagamani, Susan Blaser, Komudi Siriwardena, Annette Feigenbaum

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 492 KB

english, 2011

43

Expansion of the known phenotype for mitochondrial translation elongation factor G1 (EGF1) due to GFM1 mutations

Nasr, Enas N., Mikkilineni, Soumya, Hewson, Stacy, Blaser, Susan, Feigenbaum, Annette, Siriwardena, Komudi

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 52 KB

english, 2014

44

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

Annette Feigenbaum, Ren-Kui Bai, Emily S. Doherty, Haeyoung Kwon, Duanjun Tan, Avril Sloane, Ernest Cutz, Brian H. Robinson, Lee-Jun C. Wong

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 247 KB

english, 2006

45

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria

Venu T. Tadiboyina, Anthony Rupar, Paul Atkison, Annette Feigenbaum, Jonathan Kronick, Jian Wang, Robert A. Hegele

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 123 KB

english, 2005

46

Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay

Annette Feigenbaum, Robert Moore, Joe Clarke, Stacy Hewson, David Chitayat, Peter N. Ray, Tracy L. Stockley

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

47

Answers to Missing mtDNA Found at Last

Feigenbaum, Annette

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 109 KB

english, 2002

48

Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate

Diaz, George A., Krivitzky, Lauren S., Mokhtarani, Masoud, Rhead, William, Bartley, James, Feigenbaum, Annette, Longo, Nicola, Berquist, William, Berry, Susan A., Gallagher, Renata, Lichter-Konecki, U

Journal:

Year:

2013

Language:

english

File:

PDF, 608 KB

english, 2013

49

Solid organ transplantation in primary mitochondrial disease: Proceed with caution

Parikh, Sumit, Karaa, Amel, Goldstein, Amy, Ng, Yi S., Gorman, Grainne, Feigenbaum, Annette, Christodoulou, John, Haas, Richard, Tarnopolsky, Mark, Cohen, Bruce K., Dimmock, David, Feyma, Tim, Koenig,

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 450 KB

english, 2016

50

Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials

Nagamani, Sandesh C.S., Diaz, George A., Rhead, William, Berry, Susan A., Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, Willia

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 525 KB

english, 2015

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