Assessment of skeletal status in patients with congenital disorder of glycosylation type IA

International Journal of Tissue Reactions

Volumn 24, Issue 1, 2002, Pages 23-28

  Barone, R ^a   Pavone, V ^a   Pennisi, P ^a   Fiumara, A ^a   Fiore, Carmelo E ^a  

^a UNIVERSITY OF CATANIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALKALINE PHOSPHATASE; BIOCHEMICAL MARKER; COLLAGEN; DEOXYPYRIDINOLINE; OSTEOCALCIN; PHOSPHOMANNOMUTASE; PYRIDINOLINE;

ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; BLOOD LEVEL; BONE DENSITY; BONE DISEASE; BONE MASS; BONE TURNOVER; CASE REPORT; CLINICAL FEATURE; COMPUTED TOMOGRAPHY SCANNER; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DENSITOMETRY; ECHOGRAPHY; FEMALE; HUMAN; JOINT LIMITATION; MALE; METABOLIC DISORDER; NEUROLOGIC DISEASE; OSSIFICATION; OSTEOLYSIS; OSTEOPENIA; PROTEIN BLOOD LEVEL; PROTEIN GLYCOSYLATION; QUANTITATIVE ANALYSIS; THORAX DEFORMITY; URINARY EXCRETION; URINE LEVEL;

ADOLESCENT; ADULT; ALKALINE PHOSPHATASE; BONE AND BONES; BONE DENSITY; CARBOHYDRATE METABOLISM, INBORN ERRORS; FEMALE; FEMUR NECK; GLYCOSYLATION; HUMANS; LUMBAR VERTEBRAE; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); TOMOGRAPHY, X-RAY COMPUTED;

EID: 0036249313     PISSN: 02500868     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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2. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
3. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
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6. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I
7. Bone density measurements by computed tomography in osteogenesis imperfecta type I
8. Broadband ultrasound attenuation signals depend on trabecular orientation: An in vitro study
9. Bone elasticity and ultrasound velocity are affected by subtle changes in the organic matrix
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12. Carbohydrate-deficient glycoprotein syndrome with previously unreported features
13. Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
14. Bone sialoprotein