3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Sarah C Grünert; Martin Stucki; Raphael Johannes Morscher; Terttu Suormala; Celine Bürer; Patricie Burda; Ernst Christensen; Can Ficicioglu; Jürgen Herwig; Stefan Kölker; Dorothea Möslinger; Elisabetta Pasquini; René Santer; K Otfried Schwab; Bridget Wilcken; Brian Fowler; Wyatt W Yue; Matthias R Baumgartner

doi:10.1186/1750-1172-7-31

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Sarah C Grünert
, Martin Stucki
, Raphael Johannes Morscher (Co-Autor/-in)
, Terttu Suormala
, Celine Bürer
, Patricie Burda
, Ernst Christensen
, Can Ficicioglu
, Jürgen Herwig
, Stefan Kölker
, Dorothea Möslinger
, Elisabetta Pasquini
, René Santer
, K Otfried Schwab
, Bridget Wilcken
, Brian Fowler
, Wyatt W Yue
, Matthias R Baumgartner

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

67 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	31
Fachzeitschrift	ORPHANET JOURNAL OF RARE DISEASES
Jahrgang	7
DOIs	https://doi.org/10.1186/1750-1172-7-31
Publikationsstatus	Veröffentlicht - 2012

Zugriff auf Dokument

10.1186/1750-1172-7-31

Dieses zitieren

Grünert, S. C., Stucki, M., Morscher, R. J., Suormala, T., Bürer, C., Burda, P., Christensen, E., Ficicioglu, C., Herwig, J., Kölker, S., Möslinger, D., Pasquini, E., Santer, R., Schwab, K. O., Wilcken, B., Fowler, B., Yue, W. W., & Baumgartner, M. R. (2012). 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. ORPHANET JOURNAL OF RARE DISEASES, 7, 31. https://doi.org/10.1186/1750-1172-7-31

@article{f0f377547c924c05bcb03de7bbcf6b5b,

title = "3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.",

keywords = "TANDEM MASS-SPECTROMETRY, DEVELOPMENTAL DELAY, METABOLIC STROKE, MCCB MUTATIONS, INBORN-ERRORS, NEWBORN, BIOTIN, RESPONSIVENESS, DIAGNOSIS, INFANT",

author = "Gr{\"u}nert, \{Sarah C\} and Martin Stucki and Morscher, \{Raphael Johannes\} and Terttu Suormala and Celine B{\"u}rer and Patricie Burda and Ernst Christensen and Can Ficicioglu and J{\"u}rgen Herwig and Stefan K{\"o}lker and Dorothea M{\"o}slinger and Elisabetta Pasquini and Ren{\'e} Santer and Schwab, \{K Otfried\} and Bridget Wilcken and Brian Fowler and Yue, \{Wyatt W\} and Baumgartner, \{Matthias R\}",

year = "2012",

doi = "10.1186/1750-1172-7-31",

language = "English",

volume = "7",

pages = "31",

journal = "ORPHANET JOURNAL OF RARE DISEASES",

issn = "1750-1172",

publisher = "Springer Nature",

}

Grünert, SC, Stucki, M, Morscher, RJ, Suormala, T, Bürer, C, Burda, P, Christensen, E, Ficicioglu, C, Herwig, J, Kölker, S, Möslinger, D, Pasquini, E, Santer, R, Schwab, KO, Wilcken, B, Fowler, B, Yue, WW & Baumgartner, MR 2012, '3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.', ORPHANET JOURNAL OF RARE DISEASES, Jg. 7, S. 31. https://doi.org/10.1186/1750-1172-7-31

TY - JOUR

T1 - 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

AU - Grünert, Sarah C

AU - Stucki, Martin

AU - Morscher, Raphael Johannes

AU - Suormala, Terttu

AU - Bürer, Celine

AU - Burda, Patricie

AU - Christensen, Ernst

AU - Ficicioglu, Can

AU - Herwig, Jürgen

AU - Kölker, Stefan

AU - Möslinger, Dorothea

AU - Pasquini, Elisabetta

AU - Santer, René

AU - Schwab, K Otfried

AU - Wilcken, Bridget

AU - Fowler, Brian

AU - Yue, Wyatt W

AU - Baumgartner, Matthias R

PY - 2012

Y1 - 2012

KW - TANDEM MASS-SPECTROMETRY

KW - DEVELOPMENTAL DELAY

KW - METABOLIC STROKE

KW - MCCB MUTATIONS

KW - INBORN-ERRORS

KW - NEWBORN

KW - BIOTIN

KW - RESPONSIVENESS

KW - DIAGNOSIS

KW - INFANT

U2 - 10.1186/1750-1172-7-31

DO - 10.1186/1750-1172-7-31

M3 - Original Article

C2 - 22642865

SN - 1750-1172

VL - 7

SP - 31

JO - ORPHANET JOURNAL OF RARE DISEASES

JF - ORPHANET JOURNAL OF RARE DISEASES

ER -