Further delineation of the phenotype of congenital disorder of glycosylation DPAGT1-CDG (CDG-Ij) identified by homozygosity mapping

JIMD Reports

Volumn 2, Issue , 2012, Pages 107-111

  Imtiaz, Faiqa ^a   Al Mostafa, Abeer ^a   Al Hassnan, Zuhair N ^a,b  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Brain magnetic resonance imaging; Elevated alanine aminotransferase; Global developmental delay; Homozygosity mapping; Metachromatic leukodystrophy

Indexed keywords

EID: 84880918457     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_57     Document Type: Chapter

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