Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay

Saskia Koene, Leo A J Kluijtmans, Ron Wevers, Donald Mock, Marcel Pasch, Eva Morava-Kozicz

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)195-198
Number of pages4
JournalClinical Dysmorphology
Volume17
Issue number3
DOIs
StatePublished - Jul 1 2008
Externally publishedYes

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Growth Disorders
Multiple Abnormalities
Premature Aging
Inborn Errors Metabolism
Developmental Disabilities
Ectoderm
Preschool Children
Biotin
Glycine
Growth
3-methylcrotonyl CoA carboxylase 1 deficiency

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine

Cite this

Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay. / Koene, Saskia; Kluijtmans, Leo A J; Wevers, Ron; Mock, Donald; Pasch, Marcel; Morava-Kozicz, Eva.

In: Clinical Dysmorphology, Vol. 17, No. 3, 01.07.2008, p. 195-198.

Research output: Contribution to journalArticle

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