S. Stöckler-Ipsiroglu: search on Z-Library

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1

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

2

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

3

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

4

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

5

Tyrosinämie Typ I Klinische und biochemische Symptome bei 3 Säuglingen

J. Crone, W.D. Huber, D. Möslinger, F. Felberbauer, K. Utermann, R. Gratzl, S. Stöckler-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2000

Language:

german

File:

PDF, 117 KB

german, 2000

6

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria

S. Mercimek-Mahmutoglu, D. Moeslinger, J. Häberle, K. Engel, M. Herle, M.W. Strobl, S. Scheibenreiter, A. Muehl, S. Stöckler-Ipsiroglu

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 151 KB

english, 2010

7

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

8

Makrozephalie als Leitsymptom von neurometabolischen Erkrankungen Fallbeispiele und thematischer Überblick

B. Plecko, S. Stöckler-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2001

File:

PDF, 326 KB

2001

9

Wolf-Hirschhorn-Syndrom und frühkindliche Epilepsie

S. Mercimek-Mahmutoglu, O. S. Ipsiroglu, M. Feucht, B. Buchta-Scheicher, O. Haas, D. Prayer, S. Stöckler-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2007

Language:

german

File:

PDF, 924 KB

german, 2007

10

Neugeborenenscreening auf Zystische Fibrose (CF)

I. Eichler, S. Stöckler-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2001

Language:

german

File:

PDF, 198 KB

german, 2001

11

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

12

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

13

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

14

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

15

Mutation analysis in glycogen storage disease type

Andreas R. Janecke, Martin Lindner, Martin Erdel, Ertan Mayatepek, Dorothea Möslinger, Teodor Podskarbi, Friedrich Fresser, Silvia Stöckler-Ipsiroglu, Georg F. Hoffmann, Gerd Utermann

Journal:

Year:

2000

Language:

english

File:

PDF, 63 KB

english, 2000

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

In response to ‘Newborn screening in North America’ (Therrell and Adams (2007) J Inherit Metab Dis 30:447–465)

H. Vallance, S. Sirrs, F. Bamforth, S. Stockler-Ipsiroglu

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 159 KB

english, 2008

27

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

28

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

29

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

30

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

31

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

32

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

33

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

34

Correspondence: Response

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

Journal:

Pediatric Research

Year:

2003

Language:

english

File:

PDF, 32 KB

english, 2003

35

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

36

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

37

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

38

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

39

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

40

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

41

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

42

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

43

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

44

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

45

Improved reperfusion and neuroprotection by creatine in a mouse model of stroke

Prass, Konstantin, Royl, Georg, Lindauer, Ute, Freyer, Dorette, Megow, Dirk, Dirnagl, Ulrich, Stöckler-Ipsiroglu, Gerda, Wallimann, Theo, Priller, Josef

Journal:

Journal of Cerebral Blood Flow and Metabolism

Year:

2007

Language:

english

File:

PDF, 42 KB

english, 2007

46

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

47

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

48

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

49

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

50

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

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