Fucosidosis with hypothyroidism: A case report

Turkish Journal of Pediatrics

Volumn 46, Issue 2, 2004, Pages 170-173

  Önenli Mungan, Neslihan ^a   Özer, Güler ^a   Altunbaşak, Şakir ^a   Besley, Guy ^b   Yüksel, Bilgin ^a   Topaloǧlu, Ali Kemal ^a   Soyupak, Süreyya ^a  

^a CUKUROVA UNIVERSITY   (Turkey)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Fucosidosis

Indexed keywords

ALPHA LEVO FUCOSIDASE;

ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; BODY WEIGHT; BONE RADIOGRAPHY; CASE REPORT; CAUSE OF DEATH; CLINICAL FEATURE; COLUMN CHROMATOGRAPHY; CONGENITAL HEART MALFORMATION; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; ENZYME ACTIVITY; FACE DYSMORPHIA; FAMILY HISTORY; FUCOSIDOSIS; HEAD CIRCUMFERENCE; HEPATOMEGALY; HUMAN; HURLER SYNDROME; HYPOTHYROIDISM; INFANT; LABORATORY TEST; LUNG INFECTION; LYSOSOME STORAGE DISEASE; MALE; MUCOPOLYSACCHARIDOSIS; MYOCLONUS SEIZURE; PATIENT REFERRAL; PHYSICAL EXAMINATION; PNEUMONIA; RECURRENT INFECTION; SIBLING; SPASTICITY; THYROID FUNCTION TEST;

BONE AND BONES; BRAIN; DYSOSTOSES; FUCOSIDOSIS; HUMANS; HYPOTHYROIDISM; INFANT; MAGNETIC RESONANCE IMAGING; MALE;

EID: 2942542676     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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