O. S. Ipsiroglu: search on Z-Library

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1

Estimating percentage total body fat and determining subcutaneous adipose tissue distribution with a new noninvasive optical device LIPOMETER

Reinhard Möller, Erwin Tafeit, Karl Heinz Smolle, Thomas R. Pieber, Osman Ipsiroglu, Martina Duesse, Christian Huemer, Karl Sudi, Gilbert Reibnegger

Journal:

American Journal of Human Biology

Year:

2000

Language:

english

File:

PDF, 2.72 MB

english, 2000

2

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

3

Plötzlicher Säuglingstod und pädiatrische Schlafmedizin

Holger Förster, Osman Ipsiroglu, Reinhold Kerbl, Ekkehard Paditz

Journal:

Wiener klinische Wochenschrift

Year:

2003

Language:

german

File:

PDF, 62 KB

german, 2003

4

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

5

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

6

Glykogenose 1non-a

J. Crone, D. Möslinger, M. Huemer, W. D. Huber, T. Podskarbi, A. R. Janecke, S. Stöcker-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2001

Language:

german

File:

PDF, 110 KB

german, 2001

7

Neugeborenenscreening auf Zystische Fibrose (CF)

I. Eichler, S. Stöckler-Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2001

Language:

german

File:

PDF, 198 KB

german, 2001

8

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

9

T-L-090 DESCRIBING RESTLESS LEG SYNDROME (RLS) AS A CAUSE OF CIRCADIAN RHYTHM SLEEP DISORDERS (CRSD): VIDEO STUDIES IN THE HOME SETTING: FROM ETHNOGRAPHY TO QUANTITATIVE ANALYSES

O.S. Ipsiroglu, A. Black, A. Vilela-Barbosa, E. Vatikiotis-Bateson, William McKellin

Journal:

Year:

2011

Language:

english

File:

PDF, 85 KB

english, 2011

10

Neurophysiology of circadian rhythm sleep disorders of children with neurodevelopmental disabilities

James E. Jan, Martin C.O. Bax, Judith A. Owens, Osman S. Ipsiroglu, Michael B. Wasdell

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 196 KB

english, 2012

11

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

12

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

13

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

14

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

15

Risk Factors and Natural History of Habitual Snoring

Urschitz, Michael S., Guenther, Anke, Eitner, Steffen, Urschitz-Duprat, Pilar M., Schlaud, Martin, Ipsiroglu, Osman S., Poets, Christian F.

Journal:

Year:

2004

Language:

english

File:

PDF, 897 KB

english, 2004

16

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

17

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

18

Iron deficiency in indigenous populations in Canada And Alaska: a scoping literature review

Bao, S., McWilliams, S., Connor, J., Mattman, A., Smith, S., Stockler, S., Vitale-Cox, L., Wu, J., Ipsiroglu, O.

Journal:

Year:

2019

File:

PDF, 74 KB

2019

19

Iron deficiency and neurodevelopmental disorders (Adhd, Autism, Fetal Alcohol Spectrum Disorder/Fasd) - a scoping review

Singh, I., Leung, W., Stockler, S., Ipsiroglu, O.

Journal:

Year:

2019

File:

PDF, 53 KB

2019

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Barbara Plecko, Karl Paul, Eduard Paschke, Sylvia Stoeckler-Ipsiroglu, Eduard Struys, Cornelis Jakobs, Hans Hartmann, Thomas Luecke, Matteo di Capua, Christoph Korenke, Christiane Hikel, Elke Reutersh

Journal:

Year:

2007

Language:

english

File:

PDF, 299 KB

english, 2007

28

Characterization of seven novel mutations in seven patients with GAMT deficiency

C.B. Item, S. Mercimek-Mahmutoglu, R. Battini, C. Edlinger-Horvat, C. Stromberger, O. Bodamer, A. Mühl, M.A. Vilaseca, H. Korall, S. Stöckler-Ipsiroglu

Journal:

Year:

2004

Language:

english

File:

PDF, 38 KB

english, 2004

29

Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon

E Ploechl, W Ploechl, S Stoeckler-Ipsiroglu, H Pokorny, B Wermuth

Journal:

Clinical Genetics

Year:

2001

Language:

english

File:

PDF, 94 KB

english, 2001

30

Empfehlungen für die Bestimmung der Herzfrequenzvariabilität im pädiatrischen Schlaflabor

Andreas Patzak, Ralf Mrowka, Stephan Springer, Thomas Eckardt, Osman S. Ipsiroglu, Thomas Erler, Sigrun Hofmann, Veronique Gramse, Projektgruppe Herzfrequenzvariabilität, AG Pädiatrie der Deutschen Ge

Journal:

Somnologie - Schlafforschung und Schlafmedizin

Year:

2002

File:

PDF, 756 KB

2002

31

Cerebral blood flow velocities in the first minutes of life

O. S. Ipsiroglu, S. Stöckler, M. C. H. Häusler, F. Kainer, H. Rosegger, P. A. M. Weiß, R. Winter, T. Hayashi

Journal:

European Journal of Pediatrics

Year:

1993

Language:

english

File:

PDF, 238 KB

english, 1993

32

Are adult transcranial Doppler systems suitable for application in neonates?

O. S. Ipsiroglu, J. Steck, E. Michel, H. Pessenhofer, G. Jorch, A. Pollak

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 483 KB

english, 1996

33

Schnarchen als Leithinweis für schlafstörungen bei Schulkindern 11 und 15 Jahren — Die ersten Ergebnisse der wiener epidemiologischen Studie

Katalin Török, Ali Fatemi, Irene Werner, Reinhold Kerbl, Bernhard Schwarz, Osman S. Ipsiroglu

Journal:

Wiener klinische Wochenschrift

Year:

2003

File:

PDF, 99 KB

2003

34

Orthostasemanöver während Halothannarkose Eine Modellsituation zur Untersuchung der zerebrovaskulären Autoregulation bei Säuglingen

O.S. Ipsiroglu, J. Köhler, B. Meger, W. Pumberger, C. Grabner, M. Semsroth

Journal:

Der Anaesthesist

Year:

2000

Language:

german

File:

PDF, 193 KB

german, 2000

35

Änderungen in der SIDS-Beratung und -Prävention im Anschluss an den 4. österreichischen SIDS-Konsens von 1998

O. S. Ipsiroglu, M. Urschitz, A. Pollak

Journal:

Monatsschrift Kinderheilkunde

Year:

2003

Language:

german

File:

PDF, 230 KB

german, 2003

36

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

37

Vestibulitis, Kopfschmerzen, Makrozephalie

A. Della Marina, O. A. Bodamer, S. Stöckler-Ipsiroglu, J. Crone, D. Prayer, G. Bernert

Journal:

Monatsschrift Kinderheilkunde

Year:

2004

Language:

german

File:

PDF, 139 KB

german, 2004

38

Transkulturelle Pädiatrie

O. S. Ipsiroglu, H. Bode

Journal:

Monatsschrift Kinderheilkunde

Year:

2005

Language:

german

File:

PDF, 679 KB

german, 2005

39

Angeborene Stoffwechselerkrankungen

S. Stöckler-Ipsiroglu, M. Herle, U. Nennstiel, U. Wendel, P. Burgard, B. Plecko, O. S. Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2005

Language:

german

File:

PDF, 595 KB

german, 2005

40

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

41

Morgen- und Tagesmüdigkeit bei Schulkindern – Beginnt die Schule zu früh?

R. Kerbl, H. Zotter, W. Sauseng, H. Kenzian, O. Ipsiroglu

Journal:

Monatsschrift Kinderheilkunde

Year:

2006

Language:

german

File:

PDF, 685 KB

german, 2006

42

Bildgebende Diagnostik des Neonatal stroke

S. Kuhle, O. Ipsiroglu, S. Puig, M. Weninger, D. Prayer

Journal:

Year:

2000

Language:

german

File:

PDF, 536 KB

german, 2000

43

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

44

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

45

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

46

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

47

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

48

Outcome after renal transplantation in children from native and immigrant families in Austria

Fatma Zehra Oztek, Osman Ipsiroglu, Thomas Mueller, Christoph Aufricht

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 133 KB

english, 2009

49

Position dependent changes of cerebral blood flow velocities in premature infants

Florian Eichler, Osman Ipsiroglu, Tara Arif, Christian Popow, Harald Heinzl, Michael Urschitz, Arnold Pollak

Journal:

European Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 101 KB

english, 2001

50

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