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1

[Offshore Technology Conference Offshore Technology Conference - Houston, Texas, USA (2020-05-04)] Offshore Technology Conference - Digital Twin for Operations - Present Applications and Future Digital Thread

Podskarbi, Mat, Knezevic, David J

File:

PDF, 891 KB

2

Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Szymańska, Edyta, Szymańska, Sylwia, Truszkowska, Grażyna, Ciara, Elżbieta, Pronicki, Maciej, Shin, Yoon S., Podskarbi, Teodor, Kępka, Alina, Śpiewak, Mateusz, Płoski, Rafał, Bilińska, Zofia T., Rokic

Journal:

Archives of Medical Science

Year:

2018

Language:

english

File:

PDF, 475 KB

english, 2018

3

Design Methodology of New Furniture Joints

Podskarbi, Marcin, Smardzewski, Jerzy, Moliński, Krzysztof, Molińska-Glura, Marta

Journal:

Drvna industrija

Year:

2017

File:

PDF, 773 KB

2017

4

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

5

Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

Endo, Yoriko, Fateen, Ekram, El Shabrawy, Mortada, Aoyama, Yoshiko, Ebara, Tetsu, Murase, Toshio, Podskarbi, Teodor, Shin, Yoon S., Okubo, Minoru

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2009

Language:

english

File:

PDF, 243 KB

english, 2009

6

Numerical modelling of new demountable fasteners for frame furniture

Podskarbi, Marcin, Smardzewski, Jerzy

Journal:

Engineering Structures

Year:

2019

Language:

english

File:

PDF, 6.08 MB

english, 2019

7

Screening for galactosaemia in Greece

Kleopatra Schulpis, Evangelos D. Papakonstantinou, Helen Michelakakis, Theodor Podskarbi, Aristoula Patsouras, Yoon Shin

Journal:

Paediatric and Perinatal Epidemiology

Year:

1997

Language:

english

File:

PDF, 102 KB

english, 1997

8

Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation

B. S. Gathof, M. Sommer, T. Podskarbi, J. Reichardt, A. Braun, U. Gresser, Y. S. Shin

Journal:

Year:

1995

Language:

english

File:

PDF, 1.16 MB

english, 1995

9

Fatal arthrogryposis with respiratory insufficiency: A possible case of muscle phosphorylase b-kinase deficiency

Y. S. Shin, E. Plöchl, T. Podskarbi, W. Muss, P. Pilz, R. Puttinger

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 188 KB

english, 1994

10

Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany

T. Podskarbi, J. Reichardt, Y. S. Shin

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 129 KB

english, 1994

11

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase

T. Podskarbi, T. Kohlmetz, B. S. Gathof, B. Kleinlein, W. P. Bieger, U. Gresser, Y. S. Shin

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 498 KB

english, 1996

12

Purification ofαandβsubunits of phosphorylase-b-kinase in human liver and cardiac muscle by affinity chromatography and immunodetection

T. Podskarbi, W. Endres, Y. S. Shin

Journal:

Journal of Inherited Metabolic Disease

Year:

1991

Language:

english

File:

PDF, 259 KB

english, 1991

13

Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

Yoon S. Shin, Birgit S. Gathof, Teodor Podskarbi, Marcia Sommer, Ricardo Giugliani, Ursula Gresser

Journal:

European Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 645 KB

english, 1996

14

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants

M. Sommer, B. S. Gathof, T. Podskarbi, R. Giugliani, B. Kleinlein, Y. S. Shin

Journal:

Journal of Inherited Metabolic Disease

Year:

1995

Language:

english

File:

PDF, 927 KB

english, 1995

15

Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia

V. Schuster, Teodor Podskarbi, Holger Ottensmeier, Markus Haubner, Yoon Sook Shin

Journal:

Journal of Molecular Medicine

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

16

Adulte Polyglukosankörperkrankheit¶Fallbeispiel mit überwiegender Beteiligung des zentralen und peripheren Nervensystems und Branchingenzymdefekt in Leukozyten

E. Sindern, T. Patzold, M. Vorgerd, Y.S. Shin, T. Podskarbi, J.M. Schröder, J.P. Malin

Journal:

Year:

1999

Language:

german

File:

PDF, 351 KB

german, 1999

17

Delayed or late-onset type II glycogenosis with globular inclusions

Mehar C. Sharma, Christoph Schultze, Arpad von Moers, Gisela Stoltenburg-Didinger, Yoon S. Shin, Teodor Podskarbi, Klaus Isenhardt, Dominique S. Tews, Hans H. Goebel

Journal:

Acta Neuropathologica

Year:

2005

Language:

english

File:

PDF, 435 KB

english, 2005

18

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

19

Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type

Yoriko Endo, Asako Horinishi, Matthias Vorgerd, Yoshiko Aoyama, Tetsu Ebara, Toshio Murase, Masato Odawara, Teodor Podskarbi, Yoon S. Shin, Minoru Okubo

Journal:

Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 154 KB

english, 2006

20

Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa

Yoshiko Aoyama, Yoriko Endo, Tetsu Ebara, Toshio Murase, Yoon S. Shin, Teodor Podskarbi, Isil Ozer, Mübeccel Demirkol, Gülden Gökçay, Minoru Okubo

Journal:

Pediatrics International

Year:

2010

Language:

english

File:

PDF, 1.13 MB

english, 2010

21

BULLOUS PEMPHIGOID IN THE COURSE OF BREAST DISEASES: BOTH BREASTS, NEOPLASMATIC TUMOR; RIGHT BREAST, NEOPLASMATIC TUMOR; AND MASTOPATHY—PRESENTATION OF THREE CASES IN WOMEN AGED 65 AND OLDER

Beata Bergler-Czop, Anna Lis-Świçty, Ligia Brzezińska-Wcisło, Magdalena Podskarbi

Journal:

Journal of the American Geriatrics Society

Year:

2009

Language:

english

File:

PDF, 125 KB

english, 2009

22

Fabry disease: Case report with emphasis on enzyme replacement therapy and possible future therapeutic options

Matthias Möhrenschlager, Bertram F. Pontz, Ines Lanzl, Theodor Podskarbi, Verena Henkel, Johannes Ring

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Year:

2007

Language:

english

File:

PDF, 713 KB

english, 2007

23

Morbus Fabry: Fallbericht unter besonderer Berücksichtigung der Enzymersatztherapie sowie möglicher zukünftiger Therapieoptionen

Matthias Möhrenschlager, Bertram F. Pontz, Ines Lanzl, Theodor Podskarbi, Verena Henkel, Johannes Ring

Journal:

JDDG: Journal der Deutschen Dermatologischen Gesellschaft

Year:

2007

Language:

german

File:

PDF, 714 KB

german, 2007

24

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: Two new mutations in the GALT gene which cause a GALT activity decrease by 40–50% of normal in red cells

Y. S. Shin, H. G. Koch, M. Köhler, G. Hoffmann, A. Patsoura, T. Podskarbi

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 89 KB

english, 1998

25

Molecular aspects of glycogen storage disease type Ia in Turkish patients: A novel mutation in the glucose-6-phosphatase gene

G. Hüner, T. Podskarbi, M. Schütz, T. Baykal, G. Şarbat, Y. S. Shin, M. Demirkol

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 77 KB

english, 1998

26

Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase

Y. S. Shin, J. Zschocke, A. M. Das, T. Podskarbi

Journal:

Journal of Inherited Metabolic Disease

Year:

1999

Language:

english

File:

PDF, 50 KB

english, 1999

27

UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

Y. S. Shin, G.-C. Korenke, P. Huppke, I. Knerr, T. Podskarbi

Journal:

Journal of Inherited Metabolic Disease

Year:

2000

Language:

english

File:

PDF, 52 KB

english, 2000

28

Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome)

Henryk Skarzynski, Robert Podskarbi-Fayette

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2009

Language:

english

File:

PDF, 1.05 MB

english, 2009

29

Treatment of otological features of the oculoauriculovertebral dysplasia (Goldenhar syndrome)

Henryk Skarżyński, Marek Porowski, Robert Podskarbi-Fayette

Journal:

International Journal of Pediatric Otorhinolaryngology

Year:

2009

Language:

english

File:

PDF, 499 KB

english, 2009

30

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

Wolfgang Müller-Felber, Rita Horvath, Klaus Gempel, Teodor Podskarbi, Yoon Shin, Dieter Pongratz, Maggie C. Walter, Martina Baethmann, Beate Schlotter-Weigel, Hanns Lochmüller, Benedikt Schoser

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 122 KB

english, 2007

31

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

Benedikt Schoser, Claudio Bruno, Hans-Christian Schneider, Yoon S. Shin, Teodor Podskarbi, Lev Goldfarb, Wolfgang Müller-Felber, Josef Müller-Höcker

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.74 MB

english, 2008

32

Corrigendum to “Unclassified polysaccharidosis of the heart and skeletal muscle in siblings” [Mol. Genet. Metabol. 95 (2008) 52–58]

Benedikt Schoser, Claudio Bruno, Hans-Christian Schneider, Yoon S. Shin, Teodor Podskarbi, Lev Goldfarb, Wolfgang Müller-Felber, Josef Müller-Höcker

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 103 KB

english, 2009

33

Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphate-uridyltransferase activity

Heidrun Rhode, E Elei, Ingrid Taube, T Podskarbi, A Horn

Journal:

Clinica Chimica Acta

Year:

1998

Language:

english

File:

PDF, 147 KB

english, 1998

34

A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a

Klaus M. Keller, Martin Schütz, Teodor Podskarbi, Lutz Bindl, Michael J. Lentze, Yoon S. Shin

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 23 KB

english, 1998

35

Erratum

B. S. Gathof,M. Sommer,T. Podskarbi,J. Reichardt,A. Braun,U. Gresser…

Journal:

Year:

1996

File:

PDF, 24 KB

1996

36

Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations

Aoyama, Yoshiko, Ozer, Isil, Demirkol, Mubeccel, Ebara, Tetsu, Murase, Toshio, Podskarbi, Teodor, Shin, Yoon S, Gokcay, Gulden, Okubo, Minoru

Journal:

Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 324 KB

english, 2009

37

G.P.232

Hobbiebrunken, E., Schulz-Schaeffer, W., Podskarbi, T., Mueller-Reible, C.R., Klinge, L., Goebel, H.H., Wilichowski, E.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 44 KB

english, 2014

38

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey

Okubo, Minoru, Ucar, Sema Kalkan, Podskarbi, Teodor, Murase, Toshio, Shin, Yoon S., Coker, Mahmut

Journal:

Clinica Chimica Acta

Year:

2015

Language:

english

File:

PDF, 896 KB

english, 2015

39

Assessment method of bench joints made of wood-based composites

Smardzewski, Jerzy, İmirzi, Hasan Özgür, Lange, Julia, Podskarbi, Marcin

Journal:

Composite Structures

Year:

2015

Language:

english

File:

PDF, 1.93 MB

english, 2015

40

Results of Partial Deafness Cochlear Implantation Using Various Electrode Designs

Skar&zdot, y&nacute, ski, Henryk, Lorens, Artur, Piotrowska, Anna, Podskarbi-Fayette, Robert

Journal:

Audiology & Neuro-Otology

Year:

2009

Language:

english

File:

PDF, 252 KB

english, 2009

41

Mutations in the acid -glucosidase gene (M. Pompe) in a patient with an unusual phenotype

Anneser, J. M.H., Pongratz, D. E., Podskarbi, T., Shin, Y. S., Schoser, B. G.H.

Journal:

Year:

2005

Language:

english

File:

PDF, 266 KB

english, 2005

42

A new cochlear implant electrode design for preservation of residual hearing: a temporal bone study

Skarzynski, Henryk, Podskarbi-Fayette, Robert

Journal:

Acta Oto-Laryngologica

Year:

2010

Language:

english

File:

PDF, 195 KB

english, 2010

43

Electric stimulation complements functional residual hearing in partial deafness

Podskarbi-Fayette, Robert, Pilka, Adam, Skarzynski, Henryk

Journal:

Acta Oto-Laryngologica

Year:

2010

Language:

english

File:

PDF, 432 KB

english, 2010

44

Adult polyglucosan body disease: A postmortem correlation study

Sindern, E., Ziemssen, F., Ziemssen, T., Podskarbi, T., Shin, Y., Brasch, F., Muller, K. M., Schroder, J. M., Malin, J.-P., Vorgerd, M.

Journal:

Year:

2003

Language:

english

File:

PDF, 231 KB

english, 2003

45

Long Survival in Leigh Syndrome: New Cases and Review of Literature

Aulbert, Wiebke, Weigt-Usinger, Katharina, Thiels, Charlotte, Köhler, Cornelia, Vorgerd, Matthias, Schreiner, Anja, Hoffjan, Sabine, Rothoeft, Tobias, Wortmann, Saskia, Heyer, Christoph, Podskarbi, Te

Journal:

Neuropediatrics

Year:

2014

Language:

english

File:

PDF, 327 KB

english, 2014

46

Infantile Muscle Phosphorylase-b-Kinase Deficiency. A Case Report

Sahin, C., Güngör, T., Rettwitz-Volk, W., Schlote, W., Shin, Y., Podskarbi, T., Sewell, A.

Journal:

Neuropediatrics

Year:

1998

Language:

english

File:

PDF, 728 KB

english, 1998

47

Coincidence of 2 Severe Chronic Diseases: Presymptomatic Diagnosis of Wilson Disease in A Boy With Severe Haemophilia A

Hainmann, I., Woltering, T., Greiner, P., Nakamura, L., Podskarbi, T., Oldenburg, J., Zieger, B.

Journal:

Klinische Pädiatrie

Year:

2013

Language:

english

File:

PDF, 125 KB

english, 2013

48

Oligosymptomatic Cornea Verticillata in a Heterozygote for Fabry Disease

Kono, Jean Oscar Kono, Podskarbi, Teodor, Shin, Yoon, Lanzl, Ines

Journal:

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

49

[Offshore Technology Conference Offshore Technology Conference - Houston, Texas (2009-05-04)] Offshore Technology Conference - SS: Tahiti On-Line Monitoring System for Steel Catenary Risers and Flowlines

Karayaka, Metin, Chen, Jen-hwa, Blankenshipp, Curtiss, Ruf, Wolfgang, Podskarbi, Mateusz

Language:

english

File:

PDF, 987 KB

english

50

[The Offshore Technology Conference Offshore Technology Conference - (2009.05.4-2009.05.7)] Proceedings of Offshore Technology Conference - Tahiti Online Monitoring System for Steel Catenary Risers and Flowlines

Karayaka, Metin, Jen-hwa, Chen, blankenshipp, curtiss, Ruf, Wolfgang, Podskarbi, Mateusz

Year:

2009

Language:

english

File:

PDF, 987 KB

english, 2009