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51

Newborn screening in fabry disease: What can be achieved with early diagnosis?

Olaf A. Bodamer

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 53 KB

english, 2008

52

Foreword

Olaf Bodamer, Patrick B. Deegan

Journal:

Clinical Therapeutics

Year:

2007

Language:

english

File:

PDF, 34 KB

english, 2007

53

Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders

Olaf Bodamer, Victor De Jesus, Joan Keutzer, Kate Zhang, Wuh-Liang Hwu, Adolf Mühl

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 102 KB

english, 2008

54

Newborn screening of lysosomal storage disorders in Austria

Olaf A. Bodamer, Angela Dajnoki, György Fekete, Joan Keutzer, Joseph Orsini, Victor R. DeJesus, Kate Zhang, Adolf Mühl

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 66 KB

english, 2008

55

Advances in the Diagnosis of Pompe Disease

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

56

l-alanine supplementation in late infantile glycogen storage disease type II

Olaf A Bodamer, Dorothea Haas, Monique M Hermans, Arnold J Reuser, Georg F Hoffmann

Journal:

Pediatric Neurology

Year:

2002

Language:

english

File:

PDF, 36 KB

english, 2002

57

Resting energy expenditure in disorders of propionate metabolism

François Feillet, Olaf A.F. Bodamer, , Marjorie A. Dixon, Silvia Sequeira, James V. Leonard

Journal:

The Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 419 KB

english, 2000

58

Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onsetGLAIVS4+919G>A mutation

Chien, Yin-Hsiu, Bodamer, Olaf A., Chiang, Shu-Chuan, Mascher, Hermann, Hung, Christina, Hwu, Wuh-Liang

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 209 KB

english, 2013

59

Mitteilungen der DMG

Fan, Yao-Shan, Ouyang, Xiaomei, Peng, Jinghong, Sacharow, Stephanie, Tekin, Mustafa, Barbouth, Deborah, Bodamer, Olaf, Yusupov, Roman, Navarrete, Christina, Heller, Ana H, Pena, Sérgio DJ

Journal:

Gynäkologische Endokrinologie

Year:

2013

Language:

german

File:

PDF, 585 KB

german, 2013

60

Frequent detection of parental consanguinity in children with developmental disorders by a combined CGH and SNP microarray

Fan, Yao-Shan, Ouyang, Xiaomei, Peng, Jinghong, Sacharow, Stephanie, Tekin, Mustafa, Barbouth, Deborah, Bodamer, Olaf, Yusupov, Roman, Navarrete, Christina, Heller, Ana H, Pena, Sérgio DJ

Journal:

Molecular Cytogenetics

Year:

2013

Language:

english

File:

PDF, 275 KB

english, 2013

61

The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape

Bodamer, Olaf A., Giugliani, Roberto, Wood, Tim

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 382 KB

english, 2014

62

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

Auray-Blais, Christiane, Blais, Catherine-Marie, Ramaswami, Uma, Boutin, Michel, Germain, Dominique P., Dyack, Sarah, Bodamer, Olaf, Pintos-Morell, Guillem, Clarke, Joe T.R., Bichet, Daniel G., Warnoc

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 1.86 MB

english, 2015

63

Bridging the Gaps Between the Histopathological and Demographic Risk Factors of Preterm Birth in a Unique Miami Inner-City Population

Veerapen, Muthu Kumar, Pelaez, Liset, Potter, JoNell Efantis, Duthely, Lunthita, Birusingh, Rhea, Rampersaud, Evadnie, Bodamer, Olaf A, Rodriguez, Maria Matilde

Journal:

Fetal and Pediatric Pathology

Year:

2014

Language:

english

File:

PDF, 131 KB

english, 2014

64

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

Kingma, Sandra D.K., Bodamer, Olaf A., Wijburg, Frits A.

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 635 KB

english, 2015

65

Screening for late-onset Pompe disease in Finland

Palmio, Johanna, Auranen, Mari, Kiuru-Enari, Sari, Löfberg, Mervi, Bodamer, Olaf, Udd, Bjarne

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 182 KB

english, 2014

66

Microarray-based Detection of Mannose-binding Lectin 2 ( MBL2 ) Polymorphisms in a Routine Clinical Setting

Mitterer, Georg, Bodamer, Olaf, Harwanegg, Christian, Maurer, Wolfgang, Mueller, Manfred W., Schmidt, Wolfgang M.

Journal:

Genetic Testing

Year:

2005

Language:

english

File:

PDF, 191 KB

english, 2005

67

Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model

Tang, Manshu, Siddiqi, Anwer, Witt, Benjamin, Yuzyuk, Tatiana, Johnson, Britt, Fraser, Nisa, Chen, Wyman, Rascon, Rafael, Yin, Xue, Goli, Harish, Bodamer, Olaf A, Lai, Kent

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 2.75 MB

english, 2014

68

Correlation between birth weight, disease severity and outcomes in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)

Bodamer, Olaf, Lampe, Christina, Jones, Simon A., Scarpa, Maurizio, Zeman, Jiri, Barbouth, Deborah, Hung, Christina, Vieira, Taiane, Morin, Isabelle, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 206 KB

english, 2015

69

Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth

Bodamer, Olaf A, Mitterer, Georg, Maurer, Wolfgang, Pollak, Arnold, Mueller, Manfred W, Schmidt, Wolfgang M

Journal:

Genetics in Medicine

Year:

2006

Language:

english

File:

PDF, 522 KB

english, 2006

70

Introduction of a Novel Prototype Bioartificial Liver Support System Utilizing Small Human Hepatocytes in Rotary Culture

Wurm, Martin, Lubei, Verena, Caronna, Marco, Hermann, Martin, Buttiglieri, Stefano, Bodamer, Olaf, Muehl, Adolf, Tetta, Ciro, Margreiter, Raimund, Hengster, Paul

Journal:

Tissue Engineering Part A

Year:

2009

Language:

english

File:

PDF, 49.35 MB

english, 2009

71

Utilization of cornstarch in glycogen storage disease type Ia

Bodamer, Olaf A, Feillet, Francois, Lane, Rebecca E, Lee, Philip J, Dixon, Marjorie A, Halliday, Dave, Leonard, James V

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2002

Language:

english

File:

PDF, 107 KB

english, 2002

72

Effects of Creatine Supplementation in Rett Syndrome: A Randomized, Placebo-Controlled Trial

Freilinger, Michael, Dunkler, Daniela, Lanator, Ines, Item, Chike Bellarmine, Mühl, Adolf, Fowler, Brian, Bodamer, Olaf A.

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2011

Language:

english

File:

PDF, 857 KB

english, 2011

73

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis ?

Peake, Roy W.A., Marsden, Deborah L., Bodamer, Olaf A., Gelb, Michael H., Millington, David S., Wijburg, Frits

Journal:

Clinical Chemistry

Year:

2016

Language:

english

File:

PDF, 782 KB

english, 2016

74

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics

Sharer, J. Daniel, Bodamer, Olaf, Longo, Nicola, Tortorelli, Silvia, Wamelink, Mirjam M.C., Young, Sarah

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 549 KB

english, 2017

75

Newborn Screening for Lysosomal Storage Disorders

Peake, Roy, Bodamer, Olaf

Journal:

Journal of Pediatric Genetics

Year:

2016

Language:

english

File:

PDF, 157 KB

english, 2016

76

Dark Colored Urine in a 2-Year-Old Child

Peake, Roy W.A., Bodamer, Olaf A.

Journal:

Clinical Chemistry

Year:

2017

Language:

english

File:

PDF, 639 KB

english, 2017

77

Detección sistemática de la fenilcetonuria

Bodamer, Olaf A.

Journal:

Annales Nestlé (Ed española)

Year:

2010

Language:

spanish

File:

PDF, 142 KB

spanish, 2010

78

Dépistage de la phénylcétonurie

Bodamer, Olaf A.

Journal:

Annales Nestlé (Ed française)

Year:

2010

Language:

french

File:

PDF, 123 KB

french, 2010

79

Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

Bodamer, Olaf, Scarpa, Maurizio, Hung, Christina, Pulles, Tom, Giugliani, Roberto

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 161 KB

english, 2017

80

Newborn Screening for Pompe Disease

Bodamer, Olaf A., Scott, C. Ronald, Giugliani, Roberto

Journal:

Year:

2017

Language:

english

File:

PDF, 642 KB

english, 2017

81

Utility of rapid whole exome sequencing in the diagnosis of neonatal Niemann Pick disease type C presenting with fetal hydrops and liver failure

Rohanizadegan, Mersedeh, El-Almery, Sarah, O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf

Journal:

Molecular Case Studies

Year:

2017

Language:

english

File:

PDF, 475 KB

english, 2017

82

Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation

Iqbal, Furhan, Hoeger, Herald, Lubec, Gurt, Bodamer, Olaf

Journal:

Metabolic Brain Disease

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

83

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey

Mendelsohn, Nancy J., Harmatz, Paul, Bodamer, Olaf, Burton, Barbara K., Giugliani, Roberto, Jones, Simon A., Lampe, Christina, Malm, Gunilla, Steiner, Robert D., Parini, Rossella

Journal:

Genetics in Medicine

Year:

2010

Language:

english

File:

PDF, 445 KB

english, 2010

84

The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases

Ebrahimi-Fakhari, Darius, Hildebrandt, Clara, Davis, Peter E., Rodan, Lance H., Anselm, Irina, Bodamer, Olaf

Journal:

Movement Disorders Clinical Practice

Year:

2017

Language:

english

File:

PDF, 560 KB

english, 2017

85

IS ALANINE OF BENEFIT FOR SUBJECTS WITH ACID MALTASE DEFICIENCY? † 840

Bodamer, Olaf AF, Leonard, James V, Halliday, David

Journal:

Pediatric Research

Year:

1996

File:

PDF, 70 KB

1996

86

Early initiation of enzyme replacement therapy in pediatric Fabry disease

Bodamer, Olaf, Devarajan, Aishwarya, Sacharow, Stephanie, Hecht, Leah, Kritzer, Amy

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 49 KB

english, 2018

87

Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals

Yap, Kai Lee, Johnson, Amy E. Knight, Fischer, David, Kandikatla, Priscilla, Deml, Jacea, Nelakuditi, Viswateja, Halbach, Sara, Jeha, George S., Burrage, Lindsay C., Bodamer, Olaf, Benavides, Valeria

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

88

Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells

Li, Luyuan, Paz, Ana C., Wilky, Breelyn A., Johnson, Britt, Galoian, Karina, Rosenberg, Andrew, Hu, Guozhi, Tinoco, Gabriel, Bodamer, Olaf, Trent, Jonathan C., Mills, Ken

Journal:

Year:

2015

Language:

english

File:

PDF, 5.03 MB

english, 2015

89

Injury type-dependent differentiation of NG2 glia into heterogeneous astrocytes

Hackett, Amber R., Yahn, Stephanie L., Lyapichev, Kirill, Dajnoki, Angela, Lee, Do-Hun, Rodriguez, Mario, Cammer, Natasha, Pak, Ji, Mehta, Saloni T., Bodamer, Olaf, Lemmon, Vance P., Lee, Jae K.

Journal:

Experimental Neurology

Year:

2018

Language:

english

File:

PDF, 4.08 MB

english, 2018

90

Correction: “Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals”

Yap, Kai Lee, Johnson, Amy E. Knight, Fischer, David, Kandikatla, Priscilla, Deml, Jacea, Nelakuditi, Viswateja, Halbach, Sara, Jeha, George S., Burrage, Lindsay C., Bodamer, Olaf, Benavides, Valeria

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 168 KB

english, 2018

91

Analysis of Acid Sphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry

Legnini, Elisa, Orsini, Joe J., Mühl, Adolf, Johnson, Britt, Dajnoki, Angela, Bodamer, Olaf A

Journal:

Annals of Laboratory Medicine

Year:

2012

Language:

english

File:

PDF, 410 KB

english, 2012

92

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

Johnson, Britt, Mascher, Hermann, Mascher, Daniel, Legnini, Elisa, Hung, Christina Y, Dajnoki, Angela, Chien, Yin-Hsiu, Maródi, László, Hwu, Wuh-Liang, Bodamer, Olaf A

Journal:

Annals of Laboratory Medicine

Year:

2013

Language:

english

File:

PDF, 522 KB

english, 2013

93

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, de Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor

Journal:

Human Molecular Genetics

Year:

2019

File:

PDF, 1.43 MB

2019

94

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, de Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor

Journal:

Human Molecular Genetics

Year:

2019

File:

PDF, 1.43 MB

2019

95

A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome

Hung, Christina Y., Rodriguez, Mario, Roberts, Abra, Bauer, Mislen, Mihalek, Ivana, Bodamer, Olaf

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 2.83 MB

english, 2019

96

Screening for Phenylketonuria

Bodamer, Olaf A.

Journal:

Annales Nestlé

Year:

2010

Language:

english

File:

PDF, 160 KB

english, 2010

97

Screening for Phenylketonuria

Bodamer, Olaf A.

Journal:

Annales Nestlé

Year:

2010

File:

PDF, 160 KB

2010

98

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

Kritzer, Amy, Siddharth, Aishwarya, Leestma, Kate, Bodamer, Olaf

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 169 KB

english, 2019

99

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

Kritzer, Amy, Siddharth, Aishwarya, Leestma, Kate, Bodamer, Olaf

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 169 KB

2019

100

The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

Wang, Yirou, Li, Niu, Su, Zhe, Xu, Yufei, Liu, Shijian, Chen, Yao, Li, Xin, Shen, Yiping, Hung, Christina, Wang, Jian, Wang, Xiumin, Bodamer, Olaf

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.82 MB

english, 2019