Research ExplorerJournalsMOL GENET METAB REP

MOL GENET METAB REP - Molecular Genetics and Metabolism Reports

Bibliographical data

ISSNs2214-4269
Electronic ISSN 2214-4269

Publications

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
Murko, S., Peschka, M., Tsiakas, K., Schulz-Jürgensen, S., Herden, U. & Santer, R., 06.2023, In: MOL GENET METAB REP. 35, p. 100977

Research output: SCORING: Contribution to journal › Short publication › Research › peer-review

Health economic burden of patients with phenylketonuria (PKU) - A retrospective study of German health insurance claims data
Trefz, F., Muntau, A. C., Schneider, K. M., Altevers, J., Jacob, C., Braun, S., Greiner, W., Jha, A., Jain, M., Alvarez, I., Lane, P., Zeiss, C. & Rutsch, F., 06.2021, In: MOL GENET METAB REP. 27, p. 100764

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
Gramer, G., Hoffmann, G. F. & Hennermann, J. B., 06.2021, In: MOL GENET METAB REP. 27, 100738.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
Ammer, L. S., Pohl, S., Breyer, S. R., Aries, C., Denecke, J., Perez, A., Petzoldt, M., Schrum, J., Müller, I. & Muschol, N. M., 03.2021, In: MOL GENET METAB REP. 26, 100704.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2
Kloth, K., Vater, I., Lindschau, R., Rau, I., Caliebe, A. & Muschol, N. M., 12.2020, In: MOL GENET METAB REP. 25, 100660.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Marten, L. M., Brinkert, F., Smith, D. E. C., Prokisch, H., Hempel, M. & Santer, R., 12.2020, In: MOL GENET METAB REP. 25, p. 100681

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group
Köhn, A. F., Grigull, L., du Moulin, M., Kabisch, S., Ammer, L., Rudolph, C. & Muschol, N. M., 06.2020, In: MOL GENET METAB REP. 23, p. 100578

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
Chapman, K. A., Gramer, G., Viall, S. & Summar, M. L., 06.2018, In: MOL GENET METAB REP. 15, p. 106-109 4 p.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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