Susan Waisbren : rechercher sur Z-Library

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 1.61 MB

english, 2016

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid

Sarika U. Peters, Lynne M. Bird, Virginia Kimonis, Daniel G. Glaze, Lina M. Shinawi, Terry Jo Bichell, Rene Barbieri-Welge, Mark Nespeca, Irina Anselm, Susan Waisbren, Erica Sanborn, Qin Sun, William

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 114 KB

english, 2010

Maternal Thyroid Deficiency during Pregnancy and Subsequent Neuropsychological Development of the Child

Haddow, James E., Palomaki, Glenn E., Allan, Walter C., Williams, Josephine R., Knight, George J., Gagnon, June, O'Heir, Cheryl E., Mitchell, Marvin L., Hermos, Rosalie J., Waisbren, Susan E., Faix, J

Journal:

Boston Medical and Surgical Journal

Année:

1999

Langue:

english

Fichier:

PDF, 161 KB

english, 1999

Cognitive Strengths and Weaknesses in Children and Adolescents Homozygous for the Galactosemia Q188R Mutation: A Descriptive Study.

Antshel, Kevin M., Epstein, Ingrid O., Waisbren, Susan E.

Journal:

Neuropsychology

Année:

2004

Langue:

english

Fichier:

PDF, 264 KB

english, 2004

Long-term outcome of expanded newborn screening at Boston children’s hospital: benefits and challenges in defining true disease

Landau, Yuval E., Waisbren, Susan E., Chan, Lawrence M. A., Levy, Harvey L.

Journal:

O'Donnell-Luria, Anne H., Lin, Alexander P., Merugumala, Sai K., Rohr, Frances, Waisbren, Susan E., Lynch, Rebecca, Tchekmedyian, Vatche, Goldberg, Aaron D., Bellinger, Andrew, McFaline-Figueroa, J. R

Année:

2017

Langue:

english

Fichier:

PDF, 347 KB

english, 2017

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma

Journal:

Chinsky, Jeffrey M, Singh, Rani, Ficicioglu, Can, van Karnebeek, Clara D M, Grompe, Markus, Mitchell, Grant, Waisbren, Susan E, Gucsavas-Calikoglu, Muge, Wasserstein, Melissa P, Coakley, Katie, Scott,

Année:

2017

Langue:

english

Fichier:

PDF, 856 KB

english, 2017

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 392 KB

english, 2017

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency

Demirbas, Didem, Huang, Xiaoping, Daesety, Vikram, Feenstra, Susan, Haskovic, Minela, Qi, Wanshu, Gubbels, Cynthia S., Hecht, Leah, Levy, Harvey, Waisbren, Susan, Berry, Gerard T.

Journal:

Varvogli, Liza, Repetto, Gabriela M., Waisbren, Susan E., Levy, Harvey L.

Année:

2019

Fichier:

PDF, 2.05 MB

2019

High cognitive outcome in an adolescent with mut? methylmalonic acidemia

Journal:

American Journal of Medical Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 75 KB

english, 2000

Developmental and neuropsychological outcome in children born to mothers with phenylketonuria

Susan E. Waisbren

Journal:

Development Diabilities Research Reviews

Année:

1999

Langue:

english

Fichier:

PDF, 88 KB

english, 1999

The development of a patient knowledge test on maternal phenylketonuria

Shoshana Shiloh, Paula St. James, Susan Waisbren

Journal:

Patient Education and Counseling

Année:

1990

Langue:

english

Fichier:

PDF, 707 KB

english, 1990

A psychosocial model of a medical problem: Maternal phenylketonuria

Shoshana Shiloh, Susan E. Waisbren, Harvey L. Levy

Journal:

The Journal of Primary Prevention

Année:

1989

Langue:

english

Fichier:

PDF, 689 KB

english, 1989

Psychosocial developmental milestones in men with classic galactosemia

Cynthia Sophia Gubbels, Heleen Maurice-Stam, Gerard Thomas Berry, Annet Maria Bosch, Susan Waisbren, Maria Estela Rubio-Gozalbo, Martha Alexandra Grootenhuis

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 106 KB

english, 2011

The adult galactosemic phenotype

Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon, Robert C. Green, Patricia Greenstein, Cynthia S. Gubbels, Estela Rubio-Gozalbo, Donald Schomer, Corrine Welt, Vera Anastasoaie, Kali D’Anna, Je

Journal:

Kevin M. Antshel, Scott Brewster, Susan E. Waisbren

Année:

2012

Langue:

english

Fichier:

PDF, 154 KB

english, 2012

Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar

Journal:

Journal of Child Psychology and Psychiatry

Année:

2004

Langue:

english

Fichier:

PDF, 101 KB

english, 2004

Heartaches and Handicaps. An Irreverent Survival Manual for Parents

Susan Waisbren

Journal:

Family Process

Année:

1977

Langue:

english

Fichier:

PDF, 48 KB

english, 1977

Perceiving Women

Susan Waisbren

Journal:

Family Process

Année:

1977

Langue:

english

Fichier:

PDF, 41 KB

english, 1977

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations

Sahoo, Trilochan, Bacino, Carlos A, German, Jennifer R, Shaw, Chad A, Bird, Lynne M, Kimonis, Virginia, Anselm, Irinia, Waisbren, Susan, Beaudet, Arthur L, Peters, Sarika U

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 150 KB

english, 2007

Maternal Phenylketonuria: A Case Study Suggesting the Use of Prenatal Psychotherapy to Help Control Phenylalanine Levels

Kevin M. Antshel, Elizabeth A. Gurian, Susan E. Waisbren

Journal:

American Journal of Orthopsychiatry

Année:

2002

Langue:

english

Fichier:

PDF, 727 KB

english, 2002

Maternal γ-cystathionase deficiency: Absence of both teratogenic effects and pregnancy complications

Juan E. Vargas, S.Harvey Mudd, Susan E. Waisbren, Harvey L. Levy

Journal:

American Journal of Obstetrics and Gynecology

Année:

1999

Langue:

english

Fichier:

PDF, 16 KB

english, 1999

Cognitive function in early treated biotinidase deficiency: Follow-up of children detected by newborn screening

Jody Warner-Rogers, Susan E. Waisbren, Harvey L. Levy

Journal:

Screening

Année:

1995

Langue:

english

Fichier:

PDF, 409 KB

english, 1995

Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis

Susan E. Waisbren, Kay Noel, Kyle Fahrbach, Catherine Cella, Diana Frame, Alex Dorenbaum, Harvey Levy

Journal:

Vera Anastasoaie, Laura Kurzius, Peter Forbes, Susan Waisbren

Année:

2007

Langue:

english

Fichier:

PDF, 169 KB

english, 2007

Stability of blood phenylalanine levels and IQ in children with phenylketonuria

Journal:

Richard Koch, Friedrich Trefz, Susan Waisbren

Année:

2008

Langue:

english

Fichier:

PDF, 173 KB

english, 2008

Psychosocial issues and outcomes in maternal PKU

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 197 KB

english, 2010

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:

Susan E. Waisbren, Harvey L. Levy

Année:

2010

Langue:

english

Fichier:

PDF, 370 KB

english, 2010

Effects of untreated maternal hyperphenylalaninemia on the fetus: Further study of families identified by routine cord blood screening

Journal:

Kathryn N. North, Mark S. Korson, Yasodha R. Gopal, Frances J. Rohr, T.Berry Brazelton, Susan E. Waisbren, Matthew L. Warman

Année:

1990

Langue:

english

Fichier:

PDF, 350 KB

english, 1990

Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management

Journal:

Sook Za Kim, Liza Varvogli, Susan E. Waisbren, Harvey L. Levy

Année:

1995

Langue:

english

Fichier:

PDF, 763 KB

english, 1995

Hydroxyprolinemia: Comparison of a patient and her unaffected twin sister

Journal:

Darren J Fowler, Jonathan Picker, Susan E Waisbren, Harvey L Levy

Année:

1997

Langue:

english

Fichier:

PDF, 470 KB

english, 1997

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

Journal:

The Lancet

Année:

2002

Langue:

english

Fichier:

PDF, 44 KB

english, 2002

Speech and language deficits in early-treated children with galactosemia

Susan E. Waisbren, Trudy R. Norman, Richard R. Schnell, Harvey L. Levy

Journal:

Susan E. Waisbren, Richard Schnell, Harvey L. Levy

Année:

1983

Langue:

english

Fichier:

PDF, 246 KB

english, 1983

Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia

Journal:

Frances J. Rohr, Lauren B. Doherty, Susan E. Waisbren, Isabel V. Bailey, Mary G. Ampola, Beryl Benacerraf, Harvey L. Levy

Année:

1984

Langue:

english

Fichier:

PDF, 354 KB

english, 1984

New England Maternal PKU Project: Prospective study of untreated and treated pregnancies and their outcomes

Journal:

European Journal of Pediatrics

Année:

1987

Langue:

english

Fichier:

PDF, 1.75 MB

english, 1987

Comments on cognition and intelligence in phenylketonuria

Susan E. Waisbren

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 48 KB

english, 2000

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:

Journal of Women's Health

Année:

2015

Langue:

english

Fichier:

PDF, 2.21 MB

english, 2015

Gender Differences in Research Grant Applications and Funding Outcomes for Medical School Faculty

Waisbren, Susan E., Bowles, Hannah, Hasan, Tayaba, Zou, Kelly H., Emans, S. Jean, Goldberg, Carole, Gould, Sandra, Levine, Deborah, Lieberman, Ellice, Loeken, Mary, Longtine, Janina, Nadelson, Carol,

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 322 KB

english, 2008

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening

Waisbren, Susan E., Landau, Yuval, Wilson, Jenna, Vockley, Jerry

Journal:

Development Diabilities Research Reviews

Année:

2013

Langue:

english

Fichier:

PDF, 175 KB

english, 2013

Parents are interested in newborn genomic testing during the early postpartum period

Waisbren, Susan E., Bäck, Danielle K., Liu, Christina, Kalia, Sarah S., Ringer, Steven A., Holm, Ingrid A., Green, Robert C.

Journal:

Shiloh, Shoshana, Waisbren, Susan E., Cohen, Bernard E., St. James, Paula, Levy, Harvey L.

Année:

2015

Langue:

english

Fichier:

PDF, 501 KB

english, 2015

Cross-cultural perspectives on coping with the risks of maternal phenylketonuria

Journal:

Psychology and Health

Année:

1993

Langue:

english

Fichier:

PDF, 802 KB

english, 1993

Barriers to successful dietary control among pregnant women with phenylketonuria

Brown, Amanda Savage, Fernhoff, Paul M, Waisbren, Susan E, Frazier, Dianne M, Singh, Rani, Rohr, Fran, Morris, Jill M, Kenneson, Aileen, Macdonald, Pia, Gwinn, Marta, Honein, Margaret, Rasmussen, Sonj

Journal:

Craig, Wendy Y., Allan, Walter C., Kloza, Edward M., Pulkkinen, Andrea J., Waisbren, Susan, Spratt, Daniel I., Palomaki, Glenn E., Neveux, Louis M., Haddow, James E.

Année:

2002

Langue:

english

Fichier:

PDF, 75 KB

english, 2002

Mid-Gestational Maternal Free Thyroxine Concentration and Offspring Neurocognitive Development at Age Two Years

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 74 KB

english, 2012

Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria

Waisbren, Susan E., Hanley, William, Levy, Harvey L., Shifrin, Harvey, Allred, Elizabeth, Azen, Colleen, Chang, Pi-Nian, Cipcic-Schmidt, Sanja, de la Cruz, Felix, Hall, Ramona, Matalon, Reuben, Nanson

Journal:

JAMA The Journal of the American Medical Association

Année:

2000

Langue:

english

Fichier:

PDF, 116 KB

english, 2000

Newborn Screening for Metabolic Disorders

Waisbren, Susan E.

Journal:

JAMA The Journal of the American Medical Association

Année:

2006

Langue:

english

Fichier:

PDF, 59 KB

english, 2006

Impact of false-positive newborn metabolic screening results on early health care utilization

Lipstein, Ellen A, Perrin, James M, Waisbren, Susan E, Prosser, Lisa A

Journal: