A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Raphael Johannes Morscher; Sarah Catharina Grünert; Céline Bürer; Patricie Burda; Terttu Suormala; Brian Fowler; Matthias R Baumgartner

doi:10.1016/j.ymgme.2011.12.018

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Raphael Johannes Morscher (Erstautor/-in)
, Sarah Catharina Grünert
, Céline Bürer
, Patricie Burda
, Terttu Suormala
, Brian Fowler
, Matthias R Baumgartner

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

27 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	602-606
Fachzeitschrift	MOLECULAR GENETICS AND METABOLISM
Jahrgang	105
Ausgabenummer	4
DOIs	https://doi.org/10.1016/j.ymgme.2011.12.018
Publikationsstatus	Veröffentlicht - 2012

Zugriff auf Dokument

10.1016/j.ymgme.2011.12.018

Dieses zitieren

Morscher, R. J., Grünert, S. C., Bürer, C., Burda, P., Suormala, T., Fowler, B., & Baumgartner, M. R. (2012). A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. MOLECULAR GENETICS AND METABOLISM , 105(4), 602-606. https://doi.org/10.1016/j.ymgme.2011.12.018

Morscher, Raphael Johannes ; Grünert, Sarah Catharina ; Bürer, Céline et al. / A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. in: MOLECULAR GENETICS AND METABOLISM 2012 ; Jahrgang 105, Nr. 4. S. 602-606.

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title = "A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.",

keywords = "COA CARBOXYLASE, MOLECULAR-BASIS, BIOTIN, DIAGNOSIS, NEWBORN, RESPONSIVENESS, HYPOGLYCEMIA, SEQUENCE, GENE",

author = "Morscher, \{Raphael Johannes\} and Gr{\"u}nert, \{Sarah Catharina\} and C{\'e}line B{\"u}rer and Patricie Burda and Terttu Suormala and Brian Fowler and Baumgartner, \{Matthias R\}",

year = "2012",

doi = "10.1016/j.ymgme.2011.12.018",

language = "English",

volume = "105",

pages = "602--606",

journal = "MOLECULAR GENETICS AND METABOLISM ",

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Morscher, RJ, Grünert, SC, Bürer, C, Burda, P, Suormala, T, Fowler, B & Baumgartner, MR 2012, 'A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.', MOLECULAR GENETICS AND METABOLISM , Jg. 105, Nr. 4, S. 602-606. https://doi.org/10.1016/j.ymgme.2011.12.018

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. / Morscher, Raphael Johannes (Erstautor/-in); Grünert, Sarah Catharina; Bürer, Céline et al.
in: MOLECULAR GENETICS AND METABOLISM , Jahrgang 105, Nr. 4, 2012, S. 602-606.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

TY - JOUR

T1 - A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

AU - Morscher, Raphael Johannes

AU - Grünert, Sarah Catharina

AU - Bürer, Céline

AU - Burda, Patricie

AU - Suormala, Terttu

AU - Fowler, Brian

AU - Baumgartner, Matthias R

PY - 2012

Y1 - 2012

KW - COA CARBOXYLASE

KW - MOLECULAR-BASIS

KW - BIOTIN

KW - DIAGNOSIS

KW - NEWBORN

KW - RESPONSIVENESS

KW - HYPOGLYCEMIA

KW - SEQUENCE

KW - GENE

U2 - 10.1016/j.ymgme.2011.12.018

DO - 10.1016/j.ymgme.2011.12.018

M3 - Original Article

C2 - 22264772

SN - 1096-7192

VL - 105

SP - 602

EP - 606

JO - MOLECULAR GENETICS AND METABOLISM

JF - MOLECULAR GENETICS AND METABOLISM

IS - 4

ER -

Morscher RJ, Grünert SC, Bürer C, Burda P, Suormala T, Fowler B et al. A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. MOLECULAR GENETICS AND METABOLISM . 2012;105(4):602-606. doi: 10.1016/j.ymgme.2011.12.018