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1

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency

Huemer, Martina, Carvalho, Daniel R., Brum, Jaime M., Ünal, Özlem, Coskun, Turgay, Weisfeld-Adams, James D., Schrager, Nina L., Scholl-Bürgi, Sabine, Schlune, Andrea, Donner, Markus G., Hersberger, Ma

Journal:

Journal of Inherited Metabolic Disease

Year:

2016

Language:

english

File:

PDF, 328 KB

english, 2016

2

Mitochondrial DNA mutation “m.3243A>G”-Heterogeneous clinical picture for cardiologists (“m.3243A>G”: A phenotypic chameleon)

Niedermayr, Katharina, Pölzl, Gerhard, Scholl-Bürgi, Sabine, Fauth, Christine, Schweigmann, Ulrich, Haberlandt, Edda, Albrecht, Ursula, Zlamy, Manuela, Sperl, Wolfgang, Mayr, Johannes A., Karall, Dani

Journal:

Congenital Heart Disease

Year:

2018

Language:

english

File:

PDF, 651 KB

english, 2018

3

Breath acetone—aspects of normal physiology related to age and gender as determined in a PTR-MS study

Schwarz, K, Pizzini, A, Arendacká, B, Zerlauth, K, Filipiak, W, Schmid, A, Dzien, A, Neuner, S, Lechleitner, M, Scholl-Bürgi, S

Journal:

Journal of Breath Research

Year:

2009

Language:

english

File:

PDF, 266 KB

english, 2009

4

„Floppy infant“ mit besonderem Aussehen und Apnoen

Dr. K. Niedermayr, S. Scholl-Bürgi, U. Albrecht, R. Strobl, F. Müller, K. Maurer, K. Freund-Unsinn, E. Griesmaier, M. Baumann, D. Karall

Journal:

Monatsschrift Kinderheilkunde

Year:

2012

Language:

german

File:

PDF, 600 KB

german, 2012

5

Verwendung von Kuhmilch im Säuglingsalter

Hauer, A.C., Haiden, N., Hoffmann, K.-M., Pietschnig, B., Repa, A., Pollak, A., Rock, I., Scholl-Bürgi, S., Karall, D., Sperl, W., Weghuber, D., Zwiauer, K.

Journal:

Monatsschrift Kinderheilkunde

Year:

2014

Language:

german

File:

PDF, 263 KB

german, 2014

6

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy

Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 431 KB

english, 2014

7

Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD)

Karall, Daniela, Brunner-Krainz, Michaela, Kogelnig, Katharina, Konstantopoulou, Vassiliki, Maier, Esther M, Möslinger, Dorothea, Plecko, Barbara, Sperl, Wolfgang, Volkmar, Barbara, Scholl-Bürgi, Sabi

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 654 KB

english, 2015

8

ALG8-CDG: novel patients and review of the literature

Höck, Michaela, Wegleiter, Karina, Ralser, Elisabeth, Kiechl-Kohlendorfer, Ursula, Scholl-Bürgi, Sabine, Fauth, Christine, Steichen, Elisabeth, Pichler, Karin, Lefeber, Dirk J., Matthjis, Gert, Kelder

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 3.59 MB

english, 2015

9

Früherkennung von Kindesmisshandlung

Kapelari, K., Scholl-Bürgi, S., Lips, U., Herrmann, B.

Journal:

Monatsschrift Kinderheilkunde

Year:

2016

Language:

german

File:

PDF, 1.64 MB

german, 2016

10

Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl

Dieter Kotzot, Edda Haberlandt, Christine Fauth, Sara Baumgartner, Sabine Scholl-Bürgi, Gerd Utermann

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 83 KB

english, 2005

11

D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)

Jörn Oliver Sass, Kathleen Fischer, Raymond Wang, Ernst Christensen, Sabine Scholl-Bürgi, Richard Chang, Klaus Kapelari, Melanie Walter

Journal:

Year:

2010

Language:

english

File:

PDF, 310 KB

english, 2010

12

Effect of valproic acid treatment on body composition, leptin and the soluble leptin receptor in epileptic children

M. Rauchenzauner, E. Haberlandt, S. Scholl-Bürgi, D. Karall, E. Schoenherr, T. Tatarczyk, J. Engl, M. Laimer, G. Luef, C.F. Ebenbichler

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 193 KB

english, 2008

13

Chitotriosidase as a marker of disease activity in sarcoidosis

Jürgen Brunner, Sabine Scholl-Bürgi, Martina Prelog, Lothar-Bernd Zimmerhackl

Journal:

Rheumatology International

Year:

2007

Language:

english

File:

PDF, 145 KB

english, 2007

14

Chitotriosidase as a marker of disease activity in sarcoidosis

Jürgen Brunner, Sabine Scholl-Bürgi, Lothar-Bernd Zimmerhackl

Journal:

Rheumatology International

Year:

2007

Language:

english

File:

PDF, 147 KB

english, 2007

15

Chitotriosidase activity in juvenile idiopathic arthritis

Jürgen K. H. Brunner, Sabine Scholl-Bürgi, David Hössinger, Petra Wondrak, Martina Prelog, Lothar-Bernd Zimmerhackl

Journal:

Rheumatology International

Year:

2008

Language:

english

File:

PDF, 211 KB

english, 2008

16

Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia

Sabine Scholl-Bürgi, Jörn Oliver Sass, Peter Heinz-Erian, Edda Amann, Edda Haberlandt, Ursula Albrecht, Claudia Ertl, Sara Baumgartner Sigl, Florian Lagler, Kevin Rostasy, Daniela Karall

Journal:

Year:

2010

Language:

english

File:

PDF, 419 KB

english, 2010

17

The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’

S. Scholl-Bürgi, S. H. Korman, D. A. Applegarth, D. Karall, Y. Lillquist, P. Heinz-Erian, A. G. F. Davidson, E. Haberlandt, J. O. Sass

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 243 KB

english, 2008

18

Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency

S. Scholl-Bürgi, S. Baumgartner Sigl, J. Häberle, E. Haberlandt, K. Rostásy, C. Ertl, U. Eichinger-Öttl, P. Heinz-Erian, D. Karall

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 122 KB

english, 2008

19

Amino acid metabolism in patients with propionic acidaemia

Sabine Scholl-Bürgi, Jörn Oliver Sass, Johannes Zschocke, Daniela Karall

Journal:

Journal of Inherited Metabolic Disease

Year:

2012

Language:

english

File:

PDF, 136 KB

english, 2012

20

Predictive validity of attentional functions in differentiating children with and without ADHD: a componential analysis

LIANE KAUFMANN, NIKOLA ZIEREN, SIBYLLE ZOTTER, DANIELA KARALL, SABINE SCHOLL-BÜRGI, EDDA HABERLANDT, BRUNO FIMM

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 408 KB

english, 2010

21

Adiponectin and visfatin concentrations in children treated with valproic acid

Markus Rauchenzauner, Edda Haberlandt, Sabine Scholl-Bürgi, Barbara Ernst, Fritz Hoppichler, Daniela Karall, Christoph F. Ebenbichler, Kevin Rostasy, Gerhard Luef

Journal:

Year:

2008

Language:

english

File:

PDF, 114 KB

english, 2008

22

Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy

E. Haberlandt, S. Scholl-Bürgi, J. Neuberger, S. Felber, T. Gotwald, R. Sauter, K. Rostasy, D. Karall, R. Korinthenberg

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 678 KB

english, 2009

23

Prolonged QTc Intervals and Decreased Left Ventricular Contractility in Patients with Propionic Acidemia

Daniela Baumgartner, Sabine Scholl-Bürgi, Jörn Oliver Sass, Wolfgang Sperl, Ulrich Schweigmann, Jörg-Ingolf Stein, Daniela Karall

Journal:

The Journal of Pediatrics

Year:

2007

Language:

english

File:

PDF, 335 KB

english, 2007

24

Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy

Birgit Krabichler, Kevin Rostasy, Matthias Baumann, Daniela Karall, Sabine Scholl-Bürgi, Christoph Schwarzer, Kurt Gautsch, Ana Spreiz, Dieter Kotzot, Johannes Zschocke, Christine Fauth, Edda Haberlan

Journal:

Annals of Human Genetics

Year:

2012

Language:

english

File:

PDF, 973 KB

english, 2012

25

Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T > C, p.M226T; c.1112C > T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

Sara Baumgartner-Sigl, Edda Haberlandt, Steven Mumm, Sabine Scholl-Bürgi, Consolato Sergi, Lawrence Ryan, Karen L. Ericson, Michael P. Whyte, Wolfgang Högler

Journal:

Year:

2007

Language:

english

File:

PDF, 292 KB

english, 2007

26

Adrenocorticotropic Hormone versus Pulsatile Dexamethasone in the Treatment of Infantile Epilepsy Syndromes

Edda Haberlandt, Christine Weger, Sara Baumgartner Sigl, Markus Rauchenzauner, Sabine Scholl-Bürgi, Kevin Rostásy, Daniela Karall

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

27

Homozygosity for MECP2 gene in a girl with classical Rett syndrome

Daniela Karall, Edda Haberlandt, Sabine Scholl-Bürgi, Sara Baumgartner, Montserrat Naudó, Loreto Martorell

Journal:

European Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 248 KB

english, 2007

28

Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

Sterl, Elisabeth, Paul, Karl, Paschke, Eduard, Zschocke, Johannes, Brunner-Krainz, Michaela, Windisch, Eva, Konstantopoulou, Vassiliki, Möslinger, Dorothea, Karall, Daniela, Scholl-Bürgi, Sabine, Sper

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 236 KB

english, 2013

29

Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies

Spreiz, A., Haberlandt, E., Baumann, M., Baumgartner Sigl, S., Fauth, C., Gautsch, K., Karall, D., Janetschek, C., Rostasy, K., Scholl-Bürgi, S., Zotter, S., Utermann, G., Zschocke, J., Kotzot, D.

Journal:

Clinical Genetics

Year:

2014

Language:

english

File:

PDF, 671 KB

english, 2014

30

Simultaneous measurement of phenylalanine and tyrosine by high performance liquid chromatography (HPLC) with fluorescence detection

Neurauter, Gabriele, Scholl-Bürgi, Sabine, Haara, Astrid, Geisler, Simon, Mayersbach, Peter, Schennach, Harald, Fuchs, Dietmar

Journal:

Clinical Biochemistry

Year:

2013

Language:

english

File:

PDF, 484 KB

english, 2013

31

3-Heptanone as a potential new marker for valproic acid therapy

Erhart, S, Amann, A, Haberlandt, E, Edlinger, G, Schmid, A, Filipiak, W, Schwarz, K, Mochalski, P, Rostasy, K, Karall, D, Scholl-Bürgi, S

Journal:

Journal of Breath Research

Year:

2009

Language:

english

File:

PDF, 462 KB

english, 2009

32

Stereotactic Radiofrequency Ablation for Liver Tumors in Inherited Metabolic Disorders

Karall, Daniela, Scholl-Bürgi, Sabine, Widmann, Gerlig, Albrecht, Ursula, Niedermayr, Katharina, Maurer, Kathrin, Ausserer, Bernd, Huemer, Martina, Bale, Reto

Journal:

CardioVascular and Interventional Radiology

Year:

2014

Language:

english

File:

PDF, 450 KB

english, 2014

33

Intra-operative hypoglycemia and electrolyte imbalance in a child with Apert syndrome during craniosynostosis surgery

Hochhold, Christoph, Luckner, Günter, Strohmenger, Ulrich, Scholl-Bürgi, Sabine, Paal, Peter

Journal:

Pediatric Anesthesia

Year:

2014

Language:

english

File:

PDF, 237 KB

english, 2014

34

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ah

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 644 KB

english, 2015

35

Abnormes Schädelwachstum

Rittinger, O., Karall, D., Scholl-Bürgi, S.

Journal:

Pädiatrie & Pädologie

Year:

2015

Language:

german

File:

PDF, 623 KB

german, 2015

36

Amino Acid Cerebrospinal Fluid/Plasma Ratios in Children: Influence of Age, Gender, and Antiepileptic Medication

Scholl-Burgi, S., Haberlandt, E., Heinz-Erian, P., Deisenhammer, F., Albrecht, U., Sigl, S. B., Rauchenzauner, M., Ulmer, H., Karall, D.

Journal:

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

37

Tolerability of N-chlorotaurine in the bovine mammary gland

Huber, Johann, Winter, Petra, Gottardi, Waldemar, Scholl-Bürgi, Sabine, Prokop, Wolfgang, Nagl, Markus

Journal:

Journal Dairy Research

Year:

2008

Language:

english

File:

PDF, 106 KB

english, 2008

38

Ketogenic diets in patients with inherited metabolic disorders

Scholl-Bürgi, S., Höller, A., Pichler, K., Michel, M., Haberlandt, E., Karall, D.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 497 KB

english, 2015

39

Unrecognized Citrullinemia Mimicking Encephalitis in a 14-Year-Old Boy: Unexpected Result Through the Use of a Standardized Lumbar Puncture Protocol

Karall, Daniela, Haberlandt, Edda, Albrecht, Ursula, Rostasy, Kevin, Häberle, Johannes, Scholl-Bürgi, Sabine

Journal:

Neuropediatrics

Year:

2012

Language:

english

File:

PDF, 411 KB

english, 2012

40

Epilepsy in Patients with Propionic Acidemia

Haberlandt, E., Canestrini, C., Brunner-Krainz, M., Möslinger, D., Mussner, K., Plecko, B., Scholl-Bürgi, S., Sperl, W., Rostásy, K., Karall, D.

Journal:

Neuropediatrics

Year:

2009

Language:

english

File:

PDF, 223 KB

english, 2009

41

Severe Anemia in 3 Toddlers with Gastric Lactobezoar

Klein-Franke, A., Kropshofer, G., Gassner, I., Meister, B., Salvador, C., Scholl-Bürgi, S., Mueller, T., Heinz-Erian, P.

Journal:

Klinische Pädiatrie

Year:

2013

File:

PDF, 266 KB

2013

42

Stroke-Like Episodes in Propionic Acidemia Caused by Central Focal Metabolic Decompensation

Scholl-Bürgi, S., Haberlandt, E., Gotwald, T., Albrecht, U., Baumgartner Sigl, S., Rauchenzauner, M., Rostásy, K., Karall, D.

Journal:

Neuropediatrics

Year:

2009

Language:

english

File:

PDF, 700 KB

english, 2009

43

Cytotoxic not Vasogenic Edema is the Cause for Stroke-Like Episodes in Propionic Acidemia

D. Karall, E. Haberlandt, M. Schimmel, M. Schocke, K. Gautsch, U. Albrecht, S. Baumgartner Sigl, S. Scholl-bürgi

Year:

2011

Language:

english

File:

PDF, 154 KB

english, 2011

44

Gyrate Atrophy in 2 Siblings – Ophthalmological Findings and A New Mutation

Michel, M., Blatsios, G., Scholl-Bürgi, S., Entenmann, A., Wernstedt, A., Zschocke, A., Pichler, K., Höller, A., Karall, D.

Journal:

Klinische Pädiatrie

Year:

2015

Language:

english

File:

PDF, 446 KB

english, 2015

45

“Crossing borders” SSIEM 2014 annual symposium in Innsbruck

Karall, Daniela, Scholl-Bürgi, Sabine, Zschocke, Johannes

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 177 KB

english, 2015

46

Long-term outcome of renal glucosuria type 0: the original patient and his natural history

Scholl-Burgi, S., Santer, R., Ehrich, J. H. H.

Journal:

Nephrology Dialysis Transplantation

Year:

2004

Language:

english

File:

PDF, 94 KB

english, 2004

47

Decreased Urinary Sodium-to-urinary Creatinine Ratio Identifies Sodium Depletion in Pediatric Acute Gastroenteritis

Heinz-Erian, P., Akdar, Z., Haerter, B., Waldegger, S., Giner, T., Scholl-Bürgi, S., Mueller, T.

Journal:

Klinische Pädiatrie

Year:

2015

File:

PDF, 303 KB

2015

48

Diagnosing lactose malabsorption in children: difficulties in interpreting hydrogen breath test results

Ruzsanyi, Veronika, Heinz-Erian, Peter, Entenmann, Andreas, Karall, Daniela, Müller, Thomas, Schimkowitsch, Alexander, Amann, Anton, Scholl-Bürgi, Sabine

Journal:

Journal of Breath Research

Year:

2016

Language:

english

File:

PDF, 697 KB

english, 2016

49

Low sodium status in cystic fibrosis—as assessed by calculating fractional Na+ excretion—is associated with decreased growth parameters

Knepper, Christiane, Ellemunter, Helmut, Eder, Johannes, Niedermayr, Katharina, Haerter, Bettina, Hofer, Philipp, Scholl-Bürgi, Sabine, Müller, Thomas, Heinz-Erian, Peter

Journal:

Journal of Cystic Fibrosis

Year:

2016

Language:

english

File:

PDF, 233 KB

english, 2016

50

A Novel Homozygous SLC26A3 Nonsense Mutation in a Tyrolean Girl With Congenital Chloride Diarrhea

Heinz-Erian, Peter, Oberauer, Michaela, Neu, Nikolaus, Müller, Thomas, Scholl-Bürgi, Sabine, Hager, Josef, Pittschieler, Klaus, Janecke, Andreas R

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2008

Language:

english

File:

PDF, 152 KB

english, 2008