S. Stöckler-Ipsiroglu: search on Z-Library

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51

Analysis of guanidinoacetate and creatine by isotope dilution electrospray tandem mass spectrometry

Olaf A Bodamer, Shannon M Bloesch, Anthony R Gregg, Silvia Stockler-Ipsiroglu, William E O'Brien

Journal:

Clinica Chimica Acta

Year:

2001

Language:

english

File:

PDF, 107 KB

english, 2001

52

Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism

Josenato Ilas, Adolf Mühl, Sylvia Stöckler-Ipsiroglu

Journal:

Clinica Chimica Acta

Year:

2000

Language:

english

File:

PDF, 170 KB

english, 2000

53

Energy metabolism in graded perinatal asphyxia of the rat

Rainer Seidl, Silvia Stöckler-Ipsiroglu, Boris Rolinski, Christina Kohlhauser, Kurt R. Herkner, Barbara Lubec, Gert Lubec

Journal:

Year:

2000

Language:

english

File:

PDF, 177 KB

english, 2000

54

Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species

Osman S. Ipsiroglu, Carmen Stromberger, Josenato Ilas, Harald Höger, Adolf Mühl, Sylvia Stöckler-Ipsiroglu

Journal:

Year:

2001

Language:

english

File:

PDF, 175 KB

english, 2001

55

Recurrent acroparaesthesia during febrile infections

OA Bodamer, R Ratschmann, E Paschke, T Voigtländer, S Stockler-Ipsiroglu

Journal:

Year:

2004

Language:

english

File:

PDF, 48 KB

english, 2004

56

Infantile sialic acid storage disease and protein-losing gastroenteropathy

Lieselotte Kirchner, Susanne Kircher, Ulrike Salzer-Muhar, Eduard Paschke, Robert Birnbacher, Sylvia Stöckler-Ipsiroglu

Journal:

Pediatric Neurology

Year:

2003

Language:

english

File:

PDF, 96 KB

english, 2003

57

Cerebral blood flow velocities in an infant with moyamoya disease

Osman S Ipsiroglu, Florian Eichler, Sylvia Stöckler-Ipsiroglu, Sigfried Trattnig

Journal:

Pediatric Neurology

Year:

1999

Language:

english

File:

PDF, 192 KB

english, 1999

58

Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree

Roberta Battini, Vincenzo Leuzzi, Carla Carducci, Michela Tosetti, Maria C Bianchi, Chike B Item, Sylvia Stöckler-Ipsiroglu, Giovanni Cioni

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 121 KB

english, 2002

59

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans

Chike Bellarmine Item, Sylvia Stöckler-Ipsiroglu, Carmen Stromberger, Adolf Mühl, Maria Grazia Alessandrì, Maria Cristina Bianchi, Michela Tosetti, Francesco Fornai, Giovanni Cioni

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 451 KB

english, 2001

60

Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature

M. Huemer, C. Huemer, D. Möslinger, D. Huter, S. Stöckler-Ipsiroglu

Journal:

Journal of Inherited Metabolic Disease

Year:

2007

Language:

english

File:

PDF, 262 KB

english, 2007

61

Mutations at the Galactose-1-P-Uridyltransferase Gene in Infants with a Positive Galactosemia Newborn Screening Test

Item, Chike, Hagerty, Brian P, Mühl, Adolf, Greber-Platzer, Susanne, StÖCkler-Ipsiroglu, Sylvia, Strobl, Wolfgang

Journal:

Pediatric Research

Year:

2002

Language:

english

File:

PDF, 365 KB

english, 2002

62

The MorquioBetter Project: Global patient registry for Morquio syndrome type B disease and late-onset GM1-gangliosidosis

Alexander, George, van Karnebeek, Clara, Stöckler-Ipsiroglu, Sylvia, Paschke, Eduard

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 83 KB

english, 2013

63

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, A

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

64

Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria

Hartnett, Carol, Salvarinova-Zivkovic, Ramona, Yap-Todos, Eva, Cheng, Barbara, Giezen, Alette, Horvath, Gabriella, Lillquist, Yolanda, Vallance, Hilary, Stockler-Ipsiroglu, Sylvia

Journal:

Molecular Genetics and Metabolism

Year:

2013

Language:

english

File:

PDF, 204 KB

english, 2013

65

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases

Dunbar, Mary, Jaggumantri, Sravan, Sargent, Michael, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 1.04 MB

english, 2014

66

Newborn Screening for MCAD Deficiency: Experience of the First Three Years in British Columbia, Canada

Gabriella A. Horvath, S. Olpin, A.G.F. Davidson, B.S. Andresen, Sylvia G. Stockler-Ipsiroglu, Jan Palaty, Yolanda P. Lillquist, Judie Nelson, Paula J. Waters and Hilary Vallance

Journal:

Canadian Journal of Public Health / Revue Canadienne de Sante'e Publique

Year:

2008

Language:

english

File:

PDF, 1.36 MB

english, 2008

67

The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients

Skladal, D., Sudmeier, C., Konstantopoulou, V., Stockler-Ipsiroglu, S., Plecko-Startinig, B., Bernert, G., Zeman, J., Sperl, W.

Journal:

Clinical Pediatrics

Year:

2003

Language:

english

File:

PDF, 4.54 MB

english, 2003

68

Blood phenylalanine concentrations and dietary phenylalanine tolerance in patients with PKU in response to treatment with sapropterin hydrochloride: A multidimensional approach to determine clinically meaningful outcomes

Stockler-Ipsiroglu, Sylvia, Yuskiv, Nataliya, Apatean, Delia, Ueda, Keiko, Cheng, Barbara, Giezen, Alette, Salvarinova, Ramona, Lillquist, Yolanda

Journal:

Clinical Biochemistry

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

69

Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride

Stockler-Ipsiroglu, Sylvia, Yuskiv, Nataliya, Salvarinova, Ramona, Apatean, Delia, Ho, Gloria, Cheng, Barbara, Giezen, Alette, Lillquist, Yolanda, Ueda, Keiko

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 427 KB

english, 2015

70

Long-Term Stability of Amino Acids and Acylcarnitines in Dried Blood Spots

Strnadova, K. A., Holub, M., Muhl, A., Heinze, G., Ratschmann, R., Mascher, H., Stockler-Ipsiroglu, S., Waldhauser, F., Votava, F., Lebl, J., Bodamer, O. A.

Journal:

Clinical Chemistry

Year:

2007

Language:

english

File:

PDF, 136 KB

english, 2007

71

Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities

Sayson, Bryan, Popurs, Marioara Angela Moisa, Lafek, Mirafe, Berkow, Ruth, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D.M.

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

72

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin

Horvath, G. A., Selby, K., Poskitt, K., Hyland, K., Waters, P. J., Coulter-Mackie, M., Stockler-Ipsiroglu, S. G.

Journal:

Year:

2011

Language:

english

File:

PDF, 2.57 MB

english, 2011

73

Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome?

Holub, M., Bodamer, O., Item, C., Mühl, A., Pollak, A., Stöckler-ipsiroglu, S.

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 1.65 MB

english, 2005

74

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements

Jaggumantri, Sravan, Dunbar, Mary, Edgar, Vanessa, Mignone, Cristina, Newlove, Theresa, Elango, Rajavel, Collet, Jean Paul, Sargent, Michael, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara D.M.

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 299 KB

english, 2015

75

Minimally invasive 13C-breath test to examine phenylalanine metabolism in children with phenylketonuria

Turki, Abrar, Murthy, Gayathri, Ueda, Keiko, Cheng, Barbara, Giezen, Alette, Stockler-Ipsiroglu, Sylvia, Elango, Rajavel

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 633 KB

english, 2015

76

Failure of Repeated Cyclophosphamide Pulse Therapy in Childhood Cerebral X-Linked Adrenoleukodystrophy

Horvath, Gabriella, Eichler, Florian, Poskitt, Ken, Stockler-Ipsiroglu, Sylvia

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 206 KB

english, 2012

77

Profound Neonatal Hypoglycemia and Lactic Acidosis Caused by Pyridoxine-Dependent Epilepsy

Mercimek-Mahmutoglu, S., Horvath, G. A., Coulter-Mackie, M., Nelson, T., Waters, P. J., Sargent, M., Struys, E., Jakobs, C., Stockler-Ipsiroglu, S., Connolly, M. B.

Journal:

Year:

2012

Language:

english

File:

PDF, 525 KB

english, 2012

78

Pipecolic Acid as a Diagnostic Marker of Pyridoxine-Dependent Epilepsy

Plecko, B., Hikel, C., Korenke, G.-C., Schmitt, B., Baumgartner, M., Baumeister, F., Jakobs, C., Struys, E., Erwa, W., Stöckler-Ipsiroglu, S.

Journal:

Neuropediatrics

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

79

Maternale Phenylketonurie: Diätetische Behandlung einer Zweitgenerationserkrankung1

Möslinger, Dorothea, Scheibenreiter, Susanne, Spoula, Elisabeth, Stöckler-Ipsiroglu, Sylvia

Journal:

Zeitschrift für Geburtshilfe und Neonatologie

Year:

2000

File:

PDF, 198 KB

2000

80

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Horvath, Gabriella A., Demos, Michelle, Shyr, Casper, Matthews, Allison, Zhang, Linhua, Race, Simone, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot I., Mancarci, Ogan, Toker, Lilah, Pavlidis, Paul, Ro

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 798 KB

english, 2015

81

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Stockler-Ipsiroglu, Sylvia, Apatean, Delia, Battini, Roberta, DeBrosse, Suzanne, Dessoffy, Kimberley, Edvardson, Simon, Eichler, Florian, Johnston, Katherine, Koeller, David M., Nouioua, Sonia, Tazir,

Journal:

Molecular Genetics and Metabolism

Year:

2015

Language:

english

File:

PDF, 777 KB

english, 2015

82

Eye Findings on Vigabatrin and Taurine Treatment in Two Patients with Succinic Semialdehyde Dehydrogenase Deficiency

Horvath, Gabriella-Ana, Hukin, Juliette, Stockler-Ipsiroglu, Sylvia, Aroichane, Maryam

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 95 KB

english, 2016

83

Variability of Phenotype in Two Sisters with Pyridoxine Dependent Epilepsy

Alfadhel, Majid, Sirrs, Sandra, Waters, Paula J., Szeitz, András, Struys, Eduard, Coulter-Mackie, Marion, Stockler-Ipsiroglu, Sylvia

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2012

File:

PDF, 102 KB

2012

84

Diagnostic Value of a Multidisciplinary Clinic for Intellectual Disability

van Karnebeek, Clara, Murphy, Tyler, Giannasi, Wynona, Thomas, Marion, Connolly, Mary, Stockler-Ipsiroglu, Sylvia

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2014

File:

PDF, 869 KB

2014

85

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening

Sinclair, Graham B., van Karnebeek, Clara D.M., Ester, Manuel, Boyd, Frances, Nelson, Tanya, Stockler-Ipsiroglu, Sylvia, Vallance, Hilary

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 942 KB

english, 2016

86

Cerebral Folate Deficiency and Folinic Acid Treatment in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) Syndrome

Mercimek-Mahmutoglu, Saadet, Stockler-Ipsiroglu, Sylvia

Journal:

The Tohoku Journal of Experimental Medicine

Year:

2007

Language:

english

File:

PDF, 114 KB

english, 2007

87

The Indicator Amino Acid Oxidation Method with the Use of l-[1- 13 C]Leucine Suggests a Higher than Currently Recommended Protein Requirement in Children with Phenylketonuria

Turki, Abrar, Ueda, Keiko, Cheng, Barbara, Giezen, Alette, Salvarinova, Ramona, Stockler-Ipsiroglu, Sylvia, Elango, Rajavel

Journal:

Journal of Nutrition

Year:

2017

Language:

english

File:

PDF, 720 KB

english, 2017

88

Correspondence: Response

Plecko, Barbara, Schober, Edith, Stöckler-Ipsiroglu, Sylvia

Journal:

Pediatric Research

Year:

2003

Language:

english

File:

PDF, 32 KB

english, 2003

89

Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre

van Karnebeek, Clara D.M., Dunbar, Mary, Egri, Csilla, Sayson, Bryan, Milea, Janetta, Stockler-Ipsiroglu, Sylvia, Huh, Linda, Connolly, Mary B., Horvath, Gabriella A.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2018

File:

PDF, 230 KB

2018

90

De novo mutations in the SET nuclear proto-oncogene , encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with non-syndromic intellectual disability

Stevens, Servi JC, van der Schoot, Vyne, Leduc, Magalie S, Rinne, Tuula, Lalani, Seema R., Weiss, Marjan M, van Hagen, Johanna M, Lachmeijer, Augusta MA, Stockler-Ipsiroglu, Sylvia G, Lehman, Anna, Br

Journal:

Year:

2018

Language:

english

File:

PDF, 1010 KB

english, 2018

91

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis

Almomen, Momen, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Horvath, Gabriella

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 83 KB

english, 2018

92

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

Bleier, Maria, Yuskiv, Nataliya, Priest, Tina, Moisa Popurs, Marioara Angela, Stockler-Ipsiroglu, Sylvia

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 520 KB

english, 2018

93

Early identification of treatable inborn errors of metabolism in children with intellectual disability: The Treatable Intellectual Disability Endeavor protocol in British Columbia

van Karnebeek, Clara DM, Stockler-Ipsiroglu, Sylvia

Journal:

Paediatrics & child health

Year:

2014

Language:

english

File:

PDF, 790 KB

english, 2014

94

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

File:

PDF, 1.45 MB

2019

95

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

Apatean, Delia, Rakic, Bojana, Brunel-Guitton, Catherine, Hendson, Glenda, Bai, Renkui, Sargent, Michael A., Lavoie, Pascal M., Patel, Millan, Stockler-Ipsiroglu, Sylvia

Journal:

Molecular Genetics and Metabolism Reports

Year:

2019

Language:

english

File:

PDF, 2.02 MB

english, 2019

96

Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency

Micallef, J., Stockler-Ipsiroglu, S., van Karnebeek, C.D., Salvarinova-Zivkovic, R., Horvath, G.

Journal:

Neuropediatrics

Year:

2020

Language:

english

File:

PDF, 106 KB

english, 2020

97

Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex

Yuskiv, Nataliya, Higaki, Katsumi, Stockler-Ipsiroglu, Sylvia

Journal:

International Journal of Molecular Sciences

Year:

2020

File:

PDF, 409 KB

2020