PortalPublikationenTMEM165 Deficiency: Postnatal Changes in Glycosylation

TMEM165 Deficiency: Postnatal Changes in Glycosylation

Standard

TMEM165 Deficiency: Postnatal Changes in Glycosylation. / Althoff, S Schulte; Grüneberg, M; Reunert, J; Park, J H; Rust, S; Mühlhausen, C; Wada, Y; Santer, R; Marquardt, T.

JIMD Reports. Band 26 1. Aufl. Springer, 2016. S. 21-29 (JIMD Reports; Band 26).

Publikationen: SCORING: Beitrag in Buch/Sammelwerk › SCORING: Beitrag in Sammelwerk › Forschung › Begutachtung

Harvard

Althoff, SS, Grüneberg, M, Reunert, J, Park, JH, Rust, S, Mühlhausen, C, Wada, Y, Santer, R & Marquardt, T 2016, TMEM165 Deficiency: Postnatal Changes in Glycosylation. in JIMD Reports. 1 Aufl., Bd. 26, JIMD Reports, Bd. 26, Springer, S. 21-29. https://doi.org/10.1007/8904_2015_455

APA

Althoff, S. S., Grüneberg, M., Reunert, J., Park, J. H., Rust, S., Mühlhausen, C., Wada, Y., Santer, R., & Marquardt, T. (2016). TMEM165 Deficiency: Postnatal Changes in Glycosylation. in JIMD Reports (1 Aufl., Band 26, S. 21-29). (JIMD Reports; Band 26). Springer. https://doi.org/10.1007/8904_2015_455

Vancouver

Althoff SS, Grüneberg M, Reunert J, Park JH, Rust S, Mühlhausen C et al. TMEM165 Deficiency: Postnatal Changes in Glycosylation. in JIMD Reports. 1 Aufl. Band 26. Springer. 2016. S. 21-29. (JIMD Reports). https://doi.org/10.1007/8904_2015_455

Bibtex

@inbook{480a5fa361344d2195182622d3f9aade,
title = "TMEM165 Deficiency: Postnatal Changes in Glycosylation",
abstract = "Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndrome, cardiac defects, enlarged cerebral ventricles, feeding problems, and neurological involvement. Having confirmed the diagnosis via prenatal diagnostics, we were able to observe the glycosylation right from birth, finding a pathological pattern already on the first day of life. Within the next few weeks, hypoglycosylation progressed to less sialylated and then also to hypogalactosylated isoforms. On the whole, there has not been much published evidence concerning postnatal glycosylation and its adaptational process. This is the first paper reporting changes in glycosylation patterns over the first postnatal weeks in TMEM165-CDG.",
author = "Althoff, {S Schulte} and M Gr{\"u}neberg and J Reunert and Park, {J H} and S Rust and C M{\"u}hlhausen and Y Wada and R Santer and T Marquardt",
year = "2016",
doi = "10.1007/8904_2015_455",
language = "English",
isbn = "978-3-662-49832-3",
volume = "26",
series = "JIMD Reports",
publisher = "Springer",
pages = "21--29",
booktitle = "JIMD Reports",
address = "Germany",
edition = "1",

}

RIS

TY - CHAP

T1 - TMEM165 Deficiency: Postnatal Changes in Glycosylation

AU - Althoff, S Schulte

AU - Grüneberg, M

AU - Reunert, J

AU - Park, J H

AU - Rust, S

AU - Mühlhausen, C

AU - Wada, Y

AU - Santer, R

AU - Marquardt, T

PY - 2016

Y1 - 2016

N2 - Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndrome, cardiac defects, enlarged cerebral ventricles, feeding problems, and neurological involvement. Having confirmed the diagnosis via prenatal diagnostics, we were able to observe the glycosylation right from birth, finding a pathological pattern already on the first day of life. Within the next few weeks, hypoglycosylation progressed to less sialylated and then also to hypogalactosylated isoforms. On the whole, there has not been much published evidence concerning postnatal glycosylation and its adaptational process. This is the first paper reporting changes in glycosylation patterns over the first postnatal weeks in TMEM165-CDG.

AB - Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndrome, cardiac defects, enlarged cerebral ventricles, feeding problems, and neurological involvement. Having confirmed the diagnosis via prenatal diagnostics, we were able to observe the glycosylation right from birth, finding a pathological pattern already on the first day of life. Within the next few weeks, hypoglycosylation progressed to less sialylated and then also to hypogalactosylated isoforms. On the whole, there has not been much published evidence concerning postnatal glycosylation and its adaptational process. This is the first paper reporting changes in glycosylation patterns over the first postnatal weeks in TMEM165-CDG.

U2 - 10.1007/8904_2015_455

DO - 10.1007/8904_2015_455

M3 - SCORING: Contribution to collected editions/anthologies

C2 - 26238249

SN - 978-3-662-49832-3

VL - 26

T3 - JIMD Reports

SP - 21

EP - 29

BT - JIMD Reports

PB - Springer

ER -