Boy, Nikolas: search on Z-Library

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1

Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRI

Garbade, Sven, Boy, Nikolas, Heringer, Jana, Kölker, Stefan, Harting, Inga

Journal:

Neuropediatrics

Year:

2018

Language:

english

File:

PDF, 395 KB

english, 2018

2

Organic acidurias in adults: late complications and management

Tuncel, Ali Tunç, Boy, Nikolas, Morath, Marina A., Hörster, Friederike, Mütze, Ulrike, Kölker, Stefan

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 2.35 MB

english, 2018

3

Arachnoid Cysts || Arachnoid Cysts in Glutaric Aciduria Type I (GA-I)

Year:

2018

Language:

english

File:

PDF, 858 KB

english, 2018

4

Extrastriatal changes in patients withlate-onsetglutaric aciduria type I highlight the risk of long-term neurotoxicity

Nikolas Boy,Jana Heringer,Renate Brackmann…

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 4.16 MB

english, 2017

5

Newborn screening, a disease-changing intervention for glutaric aciduria type 1

Boy, Nikolas, Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A., Marquardt, Thorsten, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Vossbeck, Judith,

Journal:

Annals of Neurology

Year:

2018

Language:

english

File:

PDF, 1.00 MB

english, 2018

6

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan, Burgard, Peter

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 704 KB

english, 2015

7

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1

Boy, Nikolas, Garbade, Sven F., Heringer, Jana, Seitz, Angelika, Kölker, Stefan, Harting, Inga

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 2.11 MB

english, 2018

8

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Heringer, Jana, Assmann, Birgit, Burgard, Peter, Dixon, Marjorie, Fleissner, Sandra, Greenberg, Cheryl R., Harting, Inga, Hoffmann, Georg F., Karall,

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 905 KB

english, 2017

9

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience

Stefan Kölker, S.P. Nikolas Boy, Jana Heringer, Edith Müller, Esther M. Maier, Regina Ensenauer, Chris Mühlhausen, Andrea Schlune, Cheryl R. Greenberg, David M. Koeller, Georg F. Hoffmann, Gisela Haeg

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 441 KB

english, 2012

10

Newborn Screening for Glutaric Aciduria Type I: Benefits and limitations

Heringer, Jana, Boy, Nikolas, Burgard, Peter, Okun, Jürgen, Kölker, Stefan

Journal:

International Journal of Neonatal Screening

Year:

2015

Language:

english

File:

PDF, 251 KB

english, 2015

11

Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

Boy, Nikolas, Haege, Gisela, Heringer, Jana, Assmann, Birgit, MÃ¼hlhausen, Chris, Ensenauer, Regina, Maier, Esther M., LÃ¼cke, Thomas, Hoffmann, Georg F., MÃ¼ller, Edith, Burgard, Peter, KÃ¶lker, Stef

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 209 KB

english, 2013

12

Use of guidelines improves the neurological outcome in glutaric aciduria type I

Jana Heringer, S. P. Nikolas Boy, Regina Ensenauer, Birgit Assmann, Johannes Zschocke, Inga Harting, Thomas Lücke, Esther M. Maier, Chris Mühlhausen, Gisela Haege, Georg F. Hoffmann, Peter Burgard, St

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 288 KB

english, 2010

13

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Ah Mew, Nicho

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 993 KB

english, 2018

14

Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1

Boy, Nikolas, Garbade, Sven F., Heringer, Jana, Seitz, Angelika, Kölker, Stefan, Harting, Inga

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.65 MB

english, 2019

15

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

File:

PDF, 1.94 MB

2019

16

Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

Boy, Nikolas, Mengler, Katharina, Heringer-Seifert, Jana, Hoffmann, Georg F., Garbade, Sven F., KÃ¶lker, Stefan

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 714 KB

2020

17

Georg F. Hoffmann and Nenad Blau (eds): Congenital Neurotransmitter Disorders: A Clinical Approach

Boy, Nikolas, Peters, Verena

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 48 KB

english, 2015

18

Decline of Acute Encephalopathic Crises in Children with Glutaryl-CoA Dehydrogenase Deficiency Identified by Newborn Screening in Germany

Kölker, Stefan, Garbade, Sven F, Boy, Nikolas, Maier, Esther M, Meissner, Thomas, Mühlhausen, Chris, Hennermann, Julia B, Lücke, Thomas, Häberle, Johannes, Baumkötter, Jochen, Haller, Wolfram, Müller,

Journal:

Pediatric Research

Year:

2007

Language:

english

File:

PDF, 349 KB

english, 2007

19

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

Language:

english

File:

PDF, 1.94 MB

english, 2019

20

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

Harting, Inga, Boy, Nikolas, Heringer, Jana, Seitz, Angelika, Bendszus, Martin, Pouwels, Petra J.W., Kölker, Stefan

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 404 KB

english, 2015

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