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Janine Reunert Dr
41  results:
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1

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosi..:

Christina M. Quitmann ; Stephan Rust Dr. rer. nat ; Janine Reunert Dr...
https://doi.org/10.1177/2329048X211034969.  , 2021
Link: https://doi.org/10.1177/..
 
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2

Anaplerotic Therapy Using Triheptanoin in Two Brothers Suff..:

Penkl, Maximilian ; Mayr, Johannes A. ; Feichtinger, René G....
Metabolites.  14 (2024)  4 - p. 238 , 2024
Link: https://doi.org/10.3390/..
 
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3

Enteric-Coated Cysteamine Bitartrate in Cystinosis Patients:

Klank, Sabrina ; van Stein, Christina ; Grüneberg, Marianne...
Pharmaceutics.  15 (2023)  7 - p. 1851 , 2023
Link: https://doi.org/10.3390/..
 
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4

Mitochondrial DNA mutations in Medulloblastoma:

Funke, Viktoria L. E. ; Sandmann, Sarah ; Melcher, Viktoria...
Acta Neuropathologica Communications.  11 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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5

Morbus Niemann-Pick 

UNI-MED Science
Mengel, Eugen ; Beck, Michael ; Harzer, Klaus ; Marquardt, Thorsten.. - 2. Auflage . , 2021
Copies:  Zentrale:Magazin ts 7158; Zentrale:Magazin 03.h.2218
 
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6

A mutation in the neonatal isoform of SCN2A causes neonatal..:

Penkl, Anja ; Reunert, Janine ; Debus, Otfried M....
American Journal of Medical Genetics Part A.  188 (2021)  3 - p. 941-947 , 2021
Link: https://doi.org/10.1002/..
 
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7

Mannose supplementation in PMM2-CDG:

Taday, Roman ; Park, Julien H. ; Grüneberg, Marianne...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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8

Translational balancing questioned: Unaltered glycosylation..:

Kemme, Lisa ; Grüneberg, Marianne ; Reunert, Janine...
JIMD Reports.  60 (2021)  1 - p. 42-55 , 2021
Link: https://doi.org/10.1002/..
 
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9

3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A no..:

Meyer, Melanie ; Hollenbeck, Jana C. ; Reunert, Janine...
Journal of Inherited Metabolic Disease.  44 (2021)  6 - p. 1323-1329 , 2021
Link: https://doi.org/10.1002/..
 
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10

Uridine Treatment of the First Known Case of SLC25A36 Defic..:

Jasper, Luisa ; Scarcia, Pasquale ; Rust, Stephan...
International Journal of Molecular Sciences.  22 (2021)  18 - p. 9929 , 2021
Link: https://doi.org/10.3390/..
 
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11

Tubulin Folding Cofactor D Deficiency: Missing the Diagnosi..:

Quitmann, Christina M. ; Rust, Stephan ; Reunert, Janine...
Child Neurology Open.  8 (2021)  - p. 2329048X2110349 , 2021
Link: https://doi.org/10.1177/..
 
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12

A comparison of immediate release and delayed release cyste..:

van Stein, Christina ; Klank, Sabrina ; Grüneberg, Marianne...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Hypertransaminasemia and liver fibrosis associated with hap..:

Gunzer, Sophia ; Kraus, Andreas ; Buchroth, Inka...
Liver International.  41 (2021)  10 - p. 2427-2432 , 2021
Link: https://doi.org/10.1111/..
 
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14

Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive..:

Zech, Michael ; Kumar, Kishore R. ; Reining, Sophie...
Movement Disorders.  37 (2021)  1 - p. 137-147 , 2021
Link: https://doi.org/10.1002/..
 
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15

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial D..:

Belkheir, Aziza Miriam ; Reunert, Janine ; Elpers, Christiane...
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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