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Santer, René
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1

Quantification of N-acetyl-l-aspartate in dried blood spots..:

Posern, Christian ; Dreyer, Benjamin ; Maier, Sarah L....
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108489 , 2024
Link: https://doi.org/10.1016/..
 
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2

Gain-of-function variants in CLCN7 cause hypopigmentation a..:

Polovitskaya, Maya M. ; Rana, Tanushka ; Ullrich, Kurt...
Journal of Biological Chemistry.  300 (2024)  7 - p. 107437 , 2024
Link: https://doi.org/10.1016/..
 
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3

Repurposing SGLT2 inhibitors: Treatment of renal proximal t..:

Overduin, Ruben J. ; Grünert, Sarah C. ; Besouw, Martine T. P....
Journal of Inherited Metabolic Disease.  , 2024
Link: https://doi.org/10.1002/..
 
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4

Deoxyguanosine kinase deficiency: natural history and liver..:

Manzoni, Eleonora ; Carli, Sara ; Gaignard, Pauline...
Brain Communications.  6 (2024)  3 - p. , 2024
Link: https://doi.org/10.1093/..
 
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5

Neurological outcome in long‐chain hydroxy fatty acid oxida..:

Mütze, Ulrike ; Ottenberger, Alina ; Gleich, Florian...
Annals of Clinical and Translational Neurology.  11 (2024)  4 - p. 883-898 , 2024
Link: https://doi.org/10.1002/..
 
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6

CNS Manifestations in Mucolipidosis Type II—A Retrospective..:

Ammer, Luise Sophie ; Täuber, Karolin ; Perez, Anna...
Journal of Clinical Medicine.  12 (2023)  12 - p. 4114 , 2023
Link: https://doi.org/10.3390/..
 
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7

Liver transplantation in glycogen storage disease type Ib: ..:

Murko, Simona ; Peschka, Manuela ; Tsiakas, Konstantinos...
Molecular Genetics and Metabolism Reports.  35 (2023)  - p. 100977 , 2023
Link: https://doi.org/10.1016/..
 
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8

Expanding the phenotypic and biochemical spectrum of NDUFAF..:

van der Ven, Amelie T. ; Cabrera-Orefice, Alfredo ; Wente, Isabell...
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107675 , 2023
Link: https://doi.org/10.1016/..
 
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9

Isovaleric aciduria identified by newborn screening: Strate..:

Mütze, Ulrike ; Henze, Lucy ; Schröter, Julian...
Journal of Inherited Metabolic Disease.  46 (2023)  6 - p. 1063-1077 , 2023
Link: https://doi.org/10.1002/..
 
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10

Dominant-negative effect of lactase missense variants: hete..:

Wanes, Dalanda ; Stellbrinck, Tammy ; Marten, Lara M..
Gut.  , 2023
Link: https://doi.org/10.1136/..
 
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11

Human ultrarare genetic disorders of sulfur metabolism demo..:

Kožich, Viktor ; Schwahn, Bernd C ; Sokolová, Jitka...
Redox Biology.  58 (2022)  - p. 102517 , 2022
Link: https://doi.org/10.1016/..
 
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12

Disorders of Fructose Metabolism:

, In: Inborn Metabolic Diseases,
Steinmann, Beat ; Santer, René - p. 327-336 , 2022
Link: https://doi.org/10.1007/..
 
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13

Biallelic PAN2 variants in individuals with a syndromic neu..:

Reuter, Miriam S. ; Zech, Michael ; Hempel, Maja...
European Journal of Human Genetics.  30 (2022)  5 - p. 611-618 , 2022
Link: https://doi.org/10.1038/..
 
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14

Disorders of Carbohydrate Absorption, Transmembrane Transpo..:

, In: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
Derks, Terry G. J. ; Lubout, Charlotte M. A. ; Woidy, Mathias. - p. 649-700 , 2022
Link: https://doi.org/10.1007/..
 
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15

Integrative Approach to Predict Severity in Nonketotic Hype..:

Kuseyri Hübschmann, Oya ; Juliá‐Palacios, Natalia Alexandra ; Olivella, Mireia...
Annals of Neurology.  92 (2022)  2 - p. 292-303 , 2022
Link: https://doi.org/10.1002/..
 
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