Facial appearance in glycogen storage disease type III

Clinical Dysmorphology

Volumn 11, Issue 2, 2002, Pages 117-120

  Cleary, M A ^a,b   Walter, J H ^a   Kerr, B A ^a   Wraith, J E ^a  

^a MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Amylo 1,6 glucosidase deficiency; Facial dysmorphology; Glycogen storage disease type III

Indexed keywords

AMYLO 1,6 GLUCOSIDASE; CREATINE KINASE; STARCH;

ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FACE DYSMORPHIA; FEMALE; GLYCOGEN STORAGE DISEASE TYPE 3; HEPATOMEGALY; HUMAN; HYPOGLYCEMIA; INFANT; LIP MALFORMATION; MALE; MIDFACE HYPOPLASIA; MYOPATHY; NOSE MALFORMATION; OTITIS MEDIA; PRIORITY JOURNAL; PROTEIN DIET; SINUSITIS; BODY HEIGHT; CASE REPORT; FACIES; PATHOLOGY;

BODY HEIGHT; CHILD; FACIES; FEMALE; GLYCOGEN STORAGE DISEASE TYPE III; HUMANS; INFANT; MALE;

EID: 0036009947     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200204000-00008     Document Type: Article

References (5)

1. Dental and craniofacial findings in a child affected by glycogen storage disease type III
2. Glycogen storage diseases
3. Limb, genital, CNS, and facial malformations result from gene/environment-induced cholesterol deficiency: Further evidence for a link to sonic hedgehog
4. Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita