Stöckler, Sylvia: search on Z-Library

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1

Creatine metabolism in combined methylmalonic aciduria and homocystinuria

Olaf A. Bodamer, Trilochan Sahoo, Arthur L. Beaudet, William E. O'Brien, Teodoro Bottiglieri, Sylvia Stöckler-Ipsiroglu, Conrad Wagner, Fernando Scaglia

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

2

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Marion B. Coulter-Mackie, Ailin Li, Qun Lian, Eduard Struys, Sylvia Stockler, Paula J. Waters

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 305 KB

english, 2012

3

The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis & care for rare diseases

Clara D M van Karnebeek, Roderick F A Houben, Mirafe Lafek, Wynona Giannasi, Sylvia Stockler

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 352 KB

english, 2012

4

Three years experience with dried blood spot α-glucosidase screening for Pompe disease in British Columbia, Canada

Gabriella Horvath, Sandra Sirrs, Sylvia Stockler…

Journal:

BMC Musculoskeletal Disorders

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

5

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

Stockler, Sylvia, Corvera, Silvia, Lambright, David, Fogarty, Kevin, Nosova, Ekaterina, Leonard, Deborah, Steinfeld, Robert, Ackerley, Cameron, Shyr, Casper, Au, Nicolas, Selby, Kathrin, van Allen, Ma

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 2.82 MB

english, 2014

6

Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Leach, Emma L, Shevell, Michael, Bowden, Kristin, Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 285 KB

english, 2014

7

The genotypic and phenotypic spectrum of PIGA deficiency

Tarailo-Graovac, Maja, Sinclair, Graham, Stockler-Ipsiroglu, Sylvia, Van Allen, Margot, Rozmus, Jacob, Shyr, Casper, Biancheri, Roberta, Oh, Tracey, Sayson, Bryan, Lafek, Mirafe, Ross, Colin J, Robins

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.72 MB

english, 2015

8

Cerebral Creatine Deficiencies: A Group of Treatable Intellectual Developmental Disorders

Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara

Journal:

Seminars in Neurology

Year:

2014

Language:

english

File:

PDF, 178 KB

english, 2014

9

Cerebral Creatine Deficiencies: A Group of Treatable Intellectual Developmental Disorders

Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara

Journal:

Seminars in Neurology

Year:

2014

Language:

english

File:

PDF, 66 KB

english, 2014

10

Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length

Li, Amanda M., Thyagu, Santhosh, Maze, Dawn, Schreiber, Richard, Sirrs, Sandra, Stockler-Ipsiroglu, Sylvia, Sutherland, Heather, Vercauteren, Suzanne, Schultz, Kirk R.

Journal:

Pediatric Hematology-Oncology

Year:

2018

Language:

english

File:

PDF, 746 KB

english, 2018

11

Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases

Tingley, Kylie, Coyle, Doug, Graham, Ian D., Sikora, Lindsey, Chakraborty, Pranesh, Wilson, Kumanan, Mitchell, John J., Stockler-Ipsiroglu, Sylvia, Potter, Beth K.

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 931 KB

english, 2018

12

Impact of enteral arginine supplementation on lysine metabolism in humans: A proof-of-concept for lysine-related inborn errors of metabolism

Schmidt, Zoe, Murthy, Gayathri, Ennis, Madeleine, Stockler-Ipsiroglu, Sylvia, Elango, Rajavel

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

Language:

english

File:

PDF, 701 KB

english, 2020

13

Polyhydramnios as a first prenatal symptom of non-ketotic hyperglycinaemia

Walter Sterniste, Gerhard Urban, Sylvia Stöckler-Ipsiroglu, Reinhardt Mick, Michael Sacher

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 117 KB

english, 1998

14

Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect

Marjo S. Van Der Knaap, Nanda M. Verhoeven, Petra Maaswinkel-Mooij, Petra J. W. Pouwels, Wim Onkenhout, Els A. J. Peeters, Sylvia Stöckler-Ipsiroglu, Cornelius Jakobs

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 7.47 MB

english, 2000

15

Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy

Barbara Plecko, Sylvia Stöckler-Ipsiroglu, Eduard Paschke, Wolfgang Erwa, Eduard A. Struys, Cornelis Jakobs

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 3.51 MB

english, 2000

16

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

Jan Loeffen, Orly Elpeleg, Jan Smeitink, Roel Smeets, Sylvia Stöckler-Ipsiroglu, Hanna Mandel, Rob Sengers, Frans Trijbels, Lambert Van Den Heuvel

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 1.56 MB

english, 2001

17

Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review

Majid Alfadhel, Yolanda P. Lillquist, Cynthia Davis, Anne K. Junker, Sylvia Stockler-Ipsiroglu

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 107 KB

english, 2011

18

Folinic acid–responsive seizures are identical to pyridoxine-dependent epilepsy

Renata C. Gallagher, Johan L. K. Van Hove, Gunter Scharer, Keith Hyland, Barbara Plecko, Paula J. Waters, Saadet Mercimek-Mahmutoglu, Sylvia Stockler-Ipsiroglu, Gajja S. Salomons, Efraim H. Rosenberg,

Journal:

Annals of Neurology

Year:

2009

Language:

english

File:

PDF, 123 KB

english, 2009

19

Hyperhomozysteinämie

Martina Huemer, Manuela Födinger, Julia Crone, Barbara Plecko, Sylvia Stöckler-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2004

Language:

german

File:

PDF, 547 KB

german, 2004

20

Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency

W. Plöchl, Engelbert Plöchl, Herwig Pokorny, Sybille Kozek-Langenecker, Johannes Zacherl, Sylvia Stöckler-Ipsiroglu, Bendicht Wermuth, Christian K. Spiss, Ferdinand Mühlbacher

Journal:

Transplant International

Year:

2001

Language:

english

File:

PDF, 72 KB

english, 2001

21

Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype

Sylvia Stöckler-Ipsiroglu, Wolfgang Strobl, Dorothea Möslinger

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 35 KB

english, 2002

22

Sudden infant death: no evidence for linkage to common polymorphisms in the uncoupling protein-1 and the β3-adrenergic receptor genes

Ali Fatemi, Chike Item, Sylvia Stöckler-Ipsiroglu, Osman Ipsiroglu, Wolfgang Sperl, Wolfgang Patsch, Wolfgang Strobl

Journal:

European Journal of Pediatrics

Year:

2002

Language:

english

File:

PDF, 67 KB

english, 2002

23

Early diagnosis of inherited metabolic diseases: towards improving outcome

Erik Harms, Adelbert Roscher, Cornelis Jakobs, Sylvia Stöckler-Ipsiroglu

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 108 KB

english, 2003

24

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

Dorothea Möslinger, Adolf Mühl, Terttu Suormala, Regula Baumgartner, Sylvia Stöckler-Ipsiroglu

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 161 KB

english, 2003

25

Transcultural pediatrics: Compliance and outcome of phenylketonuria patients from families with an immigration background

Osman S. Ipsiroglu, Marion Herle, Elisabeth Spoula, Dorothea Möslinger, Banu Wimmer, Peter Burgard, Harald Bode, Sylvia Stöckler-Ipsiroglu

Journal:

Wiener klinische Wochenschrift

Year:

2005

File:

PDF, 79 KB

2005

26

Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation ofin-vitroenzyme activity with clinical phenotype in argininosuccinic aciduria

Katharina Engel, Jean-Marc Vuissoz, Sandra Eggimann, Murielle Groux, Christoph Berning, Liyan Hu, Vera Klaus, Dorothea Moeslinger, Saadet Mercimek-Mahmutoglu, Sylvia Stöckler, Bendicht Wermuth, Johann

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 316 KB

english, 2012

27

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients

Lorne Andrew Clarke, Harmony Hemmelgarn, Karen Colobong, Anita Thomas, Sylvia Stockler, Robin Casey, Alicia Chan, Paul Fernoff, John Mitchell

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 758 KB

english, 2012

28

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene

Andreas Holzinger, Esther Maier, Sylvia Stöckler-lpsiroglu, Andreas Braun, Adelbert A. Roscher

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 2.53 MB

english, 1998

29

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation

CLARA D M VAN KARNEBEEK, PAULA J WATERS, MICHAEL A SARGENT, MICHELLE M MEZEY, LEE-JUN WONG, JING WANG, SYLVIA STÖCKLER-IPSIROGLU

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 133 KB

english, 2011

30

10.1038/6772

Smeitink, Jan, Schuelke, Markus, Mariman, Edwin, Loeffen, Jan, Plecko, Barbara, Trijbels, Frans, Stöckler-Ipsiroglu, Sylvia, Heuvel, Lambert van den

Journal:

Nature Genetics

Year:

1999

Language:

english

File:

PDF, 224 KB

english, 1999

31

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms

Gabriella A. Horvath, Sylvia G. Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, Yolanda P. Lillquist, Mary Connolly, Keith Hyland, Nenad Blau, Tony Rupar, Paula J. Waters

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

32

Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria

Martina Huemer, Manuela Födinger, Olaf A. Bodamer, Adolf Mühl, Marion Herle, Claudia Weigmann, Hanno Ulmer, Sylvia Stöckler-Ipsiroglu, Dorothea Möslinger

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 141 KB

english, 2008

33

90. Progression of cardiac manifestation on enzyme replacement therapy in a 4–6/12-year-old patient with mucopolysaccharidosis type II, Hunter syndrome

Saadet Mercimek-Mahmutoglu, Derek Human, Sylvia Stockler-Ipsiroglu

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

34

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

Saadet Mercimek-Mahmutoglu, Adolf Muehl, Gajja S. Salomons, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A. Bodamer, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 195 KB

english, 2009

35

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification

Efraim H. Rosenberg, Eduard A. Struys, Keith Hyland, Barbara Plecko, Paula J. Waters, Saadet Mercimek-Mahmutoglu, Sylvia Stockler-Ipsiroglu, Renata C. Gallagher, Gunter Scharer, Johan L.K. Van Hove, C

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 529 KB

english, 2009

36

Treatment of intractable epilepsy in a female with SLC6A8 deficiency

Saadet Mercimek-Mahmutoglu, Mary B. Connolly, Kenneth J. Poskitt, Gabriella A. Horvath, Noel Lowry, Gajja S. Salomons, Brett Casey, Graham Sinclair, Cynthia Davis, Cornelis Jakobs, Sylvia Stockler-Ips

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 690 KB

english, 2010

37

Protective effects of d-3-hydroxybutyrate and propionate during hypoglycemic coma: Clinical and biochemical insights from infant rats

Peter W. Schutz, Eduard A. Struys, Graham Sinclair, Sylvia Stockler

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 388 KB

english, 2011

38

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

Catherine Brunel-Guitton, Brett Casey, Marion Coulter-Mackie, Hilary Vallance, Deborah Hewes, Sylvia Stockler-Ipsiroglu, Saadet Mercimek-Mahmutoglu

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 267 KB

english, 2011

39

Pyridoxine dependent epilepsy and antiquitin deficiency: Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Sylvia Stockler, Barbara Plecko, Sidney M. Gospe Jr., Marion Coulter-Mackie, Mary Connolly, Clara van Karnebeek, Saadet Mercimek-Mahmutoglu, Hans Hartmann, Gunter Scharer, Eduard Struijs, Ingrid Tein,

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 361 KB

english, 2011

40

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency

Saadet Mercimek-Mahmutoglu, Mary Dunbar, Andrea Friesen, Susan Garret, Carol Hartnett, Linda Huh, Graham Sinclair, Sylvia Stockler, Stephen Wellington, Petra J.W. Pouwels, Gajja S. Salomons, Cornelis

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 149 KB

english, 2012

41

Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

Clara D.M. van Karnebeek, Sylvia Stockler

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 588 KB

english, 2012

42

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

43

Clearance of toxic metabolites during therapy for inborn errors of metabolism

Ekkehard Ring, Gerfried Zobel, Sylvia Stöckler

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 93 KB

english, 1990

44

Symmetric hypoplasia of the temporal cerebral lobes in an infant with glutaric aciduria type II (multiple acyl-coenzyme A dehydrogenase deficiency)

Sylvia Stöckler, Herbert Radner, Eva Felizitas Karpf, Almuth Hauer, Franz Ebner

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 2.60 MB

english, 1994

45

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

46

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

47

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

48

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

49

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

50

Effects of d-3-hydroxybutyrate treatment on hypoglycemic coma in rat pups

Peter W. Schutz, Peter K.H. Wong, John O'Kusky, Sheila M. Innis, Sylvia Stockler

Journal:

Experimental Neurology

Year:

2011

Language:

english

File:

PDF, 907 KB

english, 2011