Dysmorphic facial features in aspartylglucosaminuria patients and carries

Clinical Dysmorphology

Volumn 13, Issue 1, 2004, Pages 11-15

  Arvio, Maria A ^a,f   Peippo, Maarit M ^b   Arvio, Pekka J ^c   Kääriäinen, Helena A ^b,d,e  

^a Pääjärvi Centre   (Finland)

^b Vaestoliitto   (Finland)

^c Lammi Tuulos Health Care Centre   (Finland)

^d UNIVERSITY OF TURKU   (Finland)

^e TURKU UNIVERSITY HOSPITAL   (Finland)

^f NONE   (Finland)

Author keywords

AGU; Aspartylglucosaminuria; Autosomal recessive disease; Carrier status; Dysmorphology; Lysosomal storage disease

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; ASPARTYLGLYCOSAMINURIA; AUTOSOMAL RECESSIVE DISORDER; CHILD; COARSE FACE; CONTROLLED STUDY; FACE DYSMORPHIA; FACIES; FEMALE; HUMAN; HYPERTELORISM; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; EYELID; FACE; HETEROZYGOTE; HOMOZYGOTE; INBORN ERROR OF METABOLISM; LYSOSOME STORAGE DISEASE; MIDDLE AGED; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; URINE;

N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE;

ADOLESCENT; ADULT; AGED; ASPARTYLGLUCOSYLAMINASE; CHILD; CHILD, PRESCHOOL; EYELIDS; FACE; FACIES; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPERTELORISM; LYSOSOMAL STORAGE DISEASES; MALE; METABOLISM, INBORN ERRORS; MIDDLE AGED; PHENOTYPE;

EID: 2442687004     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200401000-00003     Document Type: Article

References (12)

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