(Q81516361)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17968484%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency (English)

1 reference

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3-methylcrotonyl-CoA carboxylase deficiency

9 January 2020

main subject

0 references

author

Mitsugu Uematsu

1

1 reference

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9 January 2020

author name string

Osamu Sakamoto

2

1 reference

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9 January 2020

Noriko Sugawara

3

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9 January 2020

Naonori Kumagai

4

1 reference

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9 January 2020

Tetsuji Morimoto

5

1 reference

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9 January 2020

Seiji Yamaguchi

6

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9 January 2020

Yuki Hasegawa

7

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9 January 2020

Hironori Kobayashi

8

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9 January 2020

Kenji Ihara

9

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9 January 2020

Makoto Yoshino

10

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9 January 2020

Yoriko Watanabe

11

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9 January 2020

Takahiro Inokuchi

12

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9 January 2020

Takato Yokoyama

13

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9 January 2020

Kohji Kiwaki

14

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9 January 2020

Kimitoshi Nakamura

15

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9 January 2020

Fumio Endo

16

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9 January 2020

Shigeru Tsuchiya

17

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9 January 2020

Toshihiro Ohura

18

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9 January 2020

publication date

30 October 2007

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Journal of Human Genetics

9 January 2020

published in

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9 January 2020

volume

52

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9 January 2020

issue

12

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9 January 2020

page(s)

1040-1043

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https://scigraph.springernature.com/pub.10.1007/s10038-007-0211-9

9 January 2020

exact match

0 references

cites work

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

1 reference

12 December 2020

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications

1 reference

12 December 2020

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening

1 reference

12 December 2020

An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme: a carboxylase deficiency detected by newborn screening for maple syrup urine disease

1 reference

12 December 2020

The first case of 3-methylcrotonyl-CoA carboxylase (MCC) deficiency responsive to biotin

1 reference

12 December 2020

Screening newborns for inborn errors of metabolism by tandem mass spectrometry

1 reference

12 December 2020

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

1 reference

12 December 2020

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

1 reference

12 December 2020

Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.

1 reference

12 December 2020

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

1 reference

12 December 2020

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency

1 reference

12 December 2020

Human biotin-containing subunit of 3-methylcrotonyl-CoA carboxylase gene (MCCA): cDNA sequence, genomic organization, localization to chromosomal band 3q27, and expression

1 reference

12 December 2020

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism

1 reference

12 December 2020

10.1007/S10038-007-0211-9

Identifiers

DOI

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9 January 2020

1 reference