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1

Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

Sabine Illsinger, Thomas Lücke, Michael Peter, Jos P.N. Ruiter, Ronald J.A. Wanders, Marcus Deschauer, Ingrid Handig, Wim Wuyts, Anibh M. Das

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 61 KB

english, 2008

2

Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis

Janzen, Nils, Hofmann, Alejandro D., Schmidt, Gunnar, Das, Anibh M., Illsinger, Sabine

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1.10 MB

english, 2017

3

Impact of selected inborn errors of metabolism on prenatal and neonatal development

Sabine Illsinger, Anibh M. Das

Journal:

Year:

2010

Language:

english

File:

PDF, 226 KB

english, 2010

4

Galactokinase deficiency — Experiences over ten years in a German screening laboratory

N. Janzen, S. Illsinger, U. Steuerwald, S. Sander, U. Meyer, Y.S. Shin, H. Hartmann, T. Lücke, J. Sander, M. Peter, A.M. Das

Journal:

Clinical Biochemistry

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

5

Lysosomale Transportdefekte

A. M. Das, S. Illsinger, J. H. H. Ehrich

Journal:

Monatsschrift Kinderheilkunde

Year:

2006

Language:

german

File:

PDF, 533 KB

german, 2006

6

Enzyme replacement therapy in an adolescent with Fabry disease

Sabine Illsinger, Thomas Luecke, Hendrik Langen, Anibh M. Das

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 154 KB

english, 2003

7

Pitfalls in paediatric gait disturbances

Thomas Lücke, Sabine Illsinger, Anibh Martin Das, Eckart Schirg, Hans Hartmann

Journal:

European Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

8

Branched chain amino acids as a parameter for catabolism in treated phenylketonuria

S. Illsinger, T. Lücke, U. Meyer, B. Vaske, A. M. Das

Journal:

Year:

2005

Language:

english

File:

PDF, 161 KB

english, 2005

9

Plasma and urine amino acid pattern in preterm infants on enteral nutrition: impact of gestational age

Sabine Illsinger, Karl-Heinz Schmidt, Thomas Lücke, Bernhardt Vaske, Bettina Bohnhorst, Anibh Martin Das

Journal:

Year:

2010

Language:

english

File:

PDF, 265 KB

english, 2010

10

Developmental changes of oxalate excretion in enterally fed preterm infants

S. Illsinger, T. Lücke, B. Vaske, K.-H. Schmidt, B. Bohnhorst, A. M. Das

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 300 KB

english, 2009

11

Developmental changes of oxalate excretion in enterally fed preterm infants

S. Illsinger, T. Lücke, B. Vaske, K.-H. Schmidt, B. Bohnhorst, A. M. Das

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 34 KB

english, 2009

12

Cyclosporine A: impact on mitochondrial function in endothelial cells

Sabine Illsinger, Nils Janzen, Thomas Lücke, Jolanthe Bednarczyk, Karl-Heinz Schmidt, Ludwig Hoy, Johannes Sander, Anibh M. Das

Journal:

Clinical Transplantation

Year:

2011

Language:

english

File:

PDF, 1.03 MB

english, 2011

13

‘Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms’

S Illsinger, I Marquardt, T Lücke, C Hellerud, C Korenke, A M Das

Journal:

Developmental Medicine & Child Neurology

Year:

2007

Language:

english

File:

PDF, 58 KB

english, 2007

14

Energy metabolism in umbilical endothelial cells from preterm and term neonates

Illsinger, Sabine, Janzen, Nils, Sander, Stefanie, Bode, Julia, Mallunat, Lisa, Thomasmeyer, Rena, Hagebölling, Friederike, Schmidt, Karl-Heinz, Bednarczyk, Jolanthe, Vaske, Bernhard

Journal:

Journal of Perinatal Medicine

Year:

2011

Language:

english

File:

PDF, 557 KB

english, 2011

15

Increased asymmetric dimethylarginine (ADMA) dimethylaminohydrolase (DDAH) activity in childhood hypercholesterolemia type II

Chobanyan-Jürgens, Kristine, Fuchs, Anne-Jule, Tsikas, Dimitrios, Kanzelmeyer, Nele, Das, Anibh M., Illsinger, Sabine, Vaske, Bernhard, Jordan, Jens, Lücke, Thomas

Journal:

Year:

2012

Language:

english

File:

PDF, 242 KB

english, 2012

16

Asymmetric dimethylarginine in children with homocystinuria or phenylketonuria

Nele Kanzelmeyer, Dimitrios Tsikas, Kristine Chobanyan-Jürgens, Bibiana Beckmann, Bernhard Vaske, Sabine Illsinger, Anibh M. Das, Thomas Lücke

Journal:

Year:

2012

Language:

english

File:

PDF, 291 KB

english, 2012

17

Early Cataract Formation Due to Galactokinase Deficiency: Impact of Newborn Screening

Nils Janzen, Sabine Illsinger, Uta Meyer, Yoon S. Shin, Johannes Sander, Thomas Lücke, Anibh M. Das

Journal:

Archives of Medical Research

Year:

2011

Language:

english

File:

PDF, 94 KB

english, 2011

18

MLO05 Developmental outcome in five children with M. Hurler after stem cell transplantation with fludarabine based preparative regimen

T. Lücke, A. Das, H. Hartmann, K.W. Sykora, F. Donnerstag, S. Illsinger, M. Sauer, L. Grigull

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 45 KB

english, 2007

19

P057 Neurodevelopmental follow-up of children with congenital kidney disease and chronic renal failure at school age

N. Hawellek, L. Pape, L. Hoy, M. Wedekin, T. Lücke, S. Illsinger, A.M. Das, J.H.H. Ehrich, H. Hartmann

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 57 KB

english, 2009

20

P308 Observation of NO pathway in homocystinuria and phenylketonuria (PKU)

N.K. Kanzelmeyer, D. Tsikas, H. Hartmann, S. Illsinger, A.M. Das, T. Lücke

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

21

P20.2 Neurological complications following renal transplantation in infants and children: a retrospective single centre study

H. Hartmann, J. Muyimbwa, L. Pape, L. Hoy, S. Illsinger, A.M. Das, T. Lücke

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 50 KB

english, 2011

22

P17.3 L-2-hydroxyglutaric aciduria (L2-HGA): Infantile versus adult late-onset manifestation

S. Illsinger, E. Bültmann, D. Noll, C. Schrader, A. Wolf, A.M. Das, M. Kranendijk, G. Salomons, C. Jakobs, H. Hartmann, X.-Q. Ding, T. Lücke

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 51 KB

english, 2011

23

3-methylglutaconic aciduria type I in a boy with fever-associated seizures

Sabine Illsinger, Thomas Lücke, Johannes Zschocke, Kenneth M Gibson, Anibh M Das

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 41 KB

english, 2004

24

Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts

Thomas Lücke, Wiebke Höppner, Esther Schmidt, Sabine Illsinger, Anibh M Das

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 262 KB

english, 2004

25

BH4-sensitive hyperphenylalaninemia: new case and review of literature

Thomas Lücke, Sabine Illsinger, Christa Aulehla-Scholz, Johannes Sander, Anibh M. Das

Journal:

Pediatric Neurology

Year:

2003

Language:

english

File:

PDF, 42 KB

english, 2003

26

Glycogen Storage Disease Type 1: Impact of Medium-Chain Triglycerides on Metabolic Control and Growth

Das, Anibh M., Lücke, Thomas, Meyer, Uta, Hartmann, Hans, Illsinger, Sabine

Journal:

Annals of Nutrition & Metabolism

Year:

2010

Language:

english

File:

PDF, 337 KB

english, 2010

27

Scheie syndrome: Enzyme replacement therapy does not prevent progression of cervical myelopathy due to spinal cord compression

Illsinger, S., LÃ¼cke, T., Hartmann, H., Mengel, E., MÃ¼ller-Forell, W., Donnerstag, F., Das, A. M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 179 KB

english, 2009

28

Preeclampsia and HELLP Syndrome: Impaired Mitochondrial Function in Umbilical Endothelial Cells

Illsinger, S., Janzen, N., Sander, S., Schmidt, K.-H., Bednarczyk, J., Mallunat, L., Bode, J., Hagebolling, F., Hoy, L., Lucke, T., Hass, R., Das, A. M.

Journal:

Reproductive Sciences

Year:

2010

Language:

english

File:

PDF, 170 KB

english, 2010

29

3-Methylglutaconic aciduria type I redefined: A syndrome with late-onset leukoencephalopathy

Wortmann, S. B., Kremer, B. H., Graham, A., Willemsen, M. A., Loupatty, F. J., Hogg, S. L., Engelke, U. F., Kluijtmans, L. A., Wanders, R. J., Illsinger, S., Wilcken, B., Cruysberg, J. R., Das, A. M.,

Journal:

Year:

2010

Language:

english

File:

PDF, 334 KB

english, 2010

30

Congenital and Putatively Acquired Forms of Sucrase-isomaltase Deficiency in Infancy: Effects of Sacrosidase Therapy

Lücke, Thomas, Keiser, Markus, Illsinger, Sabine, Lentze, Michael J, Naim, Hassan Y, Das, Anibh M

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2009

Language:

english

File:

PDF, 255 KB

english, 2009

31

Inborn Errors of Energy Metabolism Associated with Myopathies

Das, Anibh M., Steuerwald, Ulrike, Illsinger, Sabine

Journal:

Journal of Biomedicine and Biotechnology

Year:

2010

Language:

english

File:

PDF, 272 KB

english, 2010

32

Prenatal benzoate treatment in urea cycle defects

Das, A M, Illsinger, S, Hartmann, H, Oehler, K, Bohnhorst, B, Kuhn-Velten, W N, Lucke, T

Journal:

Archives of Disease in Childhood - Fetal and Neonatal Edition

Year:

2008

Language:

english

File:

PDF, 135 KB

english, 2008

33

OP82 – 2546: Neurological manifestation in children with Mycoplasma pneumoniae infection

Kammer, J., Ziesing, S., Davila, L. Aguirre, Illsinger, S., Das, A.M., Hartmann, H.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 92 KB

english, 2015

34

Status epilepticus and hyperprolinaemia following recurrent gelatine administrations in a patient on peritoneal dialysis

Journal:

Nephrology Dialysis Transplantation

Year:

2006

Language:

english

File:

PDF, 78 KB

english, 2006

35

Ornithine transcarbamylase deficiency in a girl with hyperkinetic behaviour

Lücke, Thomas, Illsinger, Sabine, Hartmann, Hans, Sasse, Michael, Donnerstag, Frank, Schneppenheim, Reinhard, Das, Anibh

Journal:

Journal of Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 375 KB

english, 2015

36

Neurological Manifestations of Mycoplasma pneumoniae Infection in Hospitalized Children and Their Long-Term Follow-Up

Kammer, Jessica, Ziesing, Stefan, Davila, Lukas, Bültmann, Eva, Illsinger, Sabine, Das, Anibh, Haffner, Dieter, Hartmann, Hans

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 228 KB

english, 2016

37

Comprehensive analysis of thel-arginine/l-homoarginine/nitric oxide pathway in preterm neonates: potential roles for homoarginine and asymmetric dimethylarginine in foetal growth

Buck, Anna, Kayacelebi, Arslan Arinc, Chobanyan-Jürgens, Kristine, Illsinger, Sabine, Bohnhorst, Bettina, Beckmann, Bibiana, Hanff, Erik, Das, Anibh M., Tsikas, Dimitrios, Lücke, Thomas

Journal:

Year:

2017

Language:

english

File:

PDF, 601 KB

english, 2017

38

Long-term neurodevelopmental outcome of patients with Mucopolysaccharidosis-1H (MPS-1H) following hematopoietic stem cell transplantation (HSCT)

Hartmann, H., Prüfe, J., Illsinger, S., Das, A.M., Lücke, T., Grigull, L.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 56 KB

english, 2017

39

Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential

Chao, Mwe, Illsinger, Sabine, Yoshimi, Ayami, Das, Anibh, Kratz, Christian

Journal:

Klinische Pädiatrie

Year:

2017

Language:

english

File:

PDF, 165 KB

english, 2017

40

Correction: Congenital Transcobalamin II Deficiency: A Rare Entity with a Broad Differential

Chao, Mwe, Illsinger, Sabine, Yoshimi, Ayami, Das, Anibh, Kratz, Christian

Journal:

Klinische Pädiatrie

Year:

2017

File:

PDF, 73 KB

2017

41

Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

Illsinger, Sabine, Korenke, G. Christoph, Boesch, Sylvia, Nocker, Michael, Karall, Daniela, Nuoffer, Jean M., Laugwitz, Lucia, Mayr, Johannes A., Scholl-BÃ¼rgi, Sabine, Freisinger, Peter, Kowald, Tobi

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 8.20 MB

2020

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