Research ExplorerJournalsMOL GENET METAB

MOL GENET METAB - Molecular genetics and metabolism

Bibliographical data

ISSNs1096-7192
Electronic ISSN 1096-7206

Publications

Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuria
Burton, B. K., Clague, G. E., Harding, C. O., Kucuksayrac, E., Levy, D. G., Lindstrom, K., Longo, N., Maillot, F., Muntau, A. C., Rutsch, F. & Zori, R. T., 01.2024, In: MOL GENET METAB. 141, 1, p. 108114

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Management of phenylketonuria in European PKU centres remains heterogeneous
Kirsten, A., Amaya, B-Q., Alberto, B., Maria, G., Francois, M., Ania, M., Anne, R. & Anita, M., 01.2024, In: MOL GENET METAB. 141, 1, p. 108120

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

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven, A. T., Cabrera-Orefice, A., Wente, I., Feichtinger, R. G., Tsiakas, K., Weiss, D., Bierhals, T., Scholle, L., Prokisch, H., Kopajtich, R., Santer, R., Mayr, J. A., Hempel, M. & Wittig, I., 11.2023, In: MOL GENET METAB. 140, 3, p. 107675

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

Two years of pegvaliase in Germany: Experiences and best practice recommendations
Krämer, J., Baerwald, C., Heimbold, C., Kamrath, C., Parhofer, K. G., Reichert, A., Rutsch, F., Stolz, S., Weinhold, N. & Muntau, A. C., 05.2023, In: MOL GENET METAB. 139, 1, p. 107564

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

Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene
Förster, L., Tiede, S., Rudolph, C. & Muschol, N. M., 02.2023, In: MOL GENET METAB. 138, 2, 107104.

Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach
Burton, B. K., Hermida, Á., Bélanger-Quintana, A., Bell, H., Bjoraker, K. J., Christ, S. E., Grant, M. L., Harding, C. O., Huijbregts, S. C. J., Longo, N., McNutt, M. C., Nguyen-Driver, M. D., Santos Pessoa, A. L., Rocha, J. C., Sacharow, S., Sanchez-Valle, A., Sivri, H. S., Vockley, J., Walterfang, M., Whittle, S. & Muntau, A. C., 27.08.2022, In: MOL GENET METAB. 137, 1-2, p. 114-126 13 p.

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

Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis
Hohenfellner, K., Nießl, C., Haffner, D., Oh, J., Okorn, C., Palm, K., Schlingmann, K-P., Wygoda, S. & Gahl, W. A., 08.2022, In: MOL GENET METAB. 136, 4, p. 282-288 7 p.

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

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis
Nießl, C., Boulesteix, A-L., Oh, J., Palm, K., Schlingmann, P., Wygoda, S., Haffner, D., Wühl, E., Tönshoff, B., Buescher, A., Billing, H., Hoppe, B., Zirngibl, M., Kettwig, M., Moeller, K., Acham-Roschitz, B., Arbeiter, K., Bald, M., Benz, M., Galiano, M., John-Kroegel, U., Klaus, G., Marx-Berger, D., Moser, K., Mueller, D., Patzer, L., Pohl, M., Seitz, B., Treikauskas, U., von Vigier, R. O., Gahl, W. A. & Hohenfellner, K., 08.2022, In: MOL GENET METAB. 136, 4, p. 268-273 6 p.

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An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA
Wijburg, F. A., Aiach, K., Chakrapani, A., Eisengart, J. B., Giugliani, R., Héron, B., Muschol, N., O'Neill, C., Olivier, S. & Parker, S., 02.2022, In: MOL GENET METAB. 135, 2, p. 133-142 10 p.

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

Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment
Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Rudolph, C. & Muschol, N., 02.2022, In: MOL GENET METAB. 135, 2, S19.

Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

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