about
Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic diseaseCarbohydrate-deficient glycoprotein syndromes.Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study.Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome.Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients.Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years.Disialotransferrin developmental deficiency syndrome and olivopontocerebellar atrophy.Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Prenatal diagnosis of fatal infantile olivopontocerebellar hypoplasia syndrome.PMM2-CDG and sensorineural hearing loss.Ocular pathology in disialotransferrin developmental deficiency syndrome.Neurometabolic testing in developmental delay.
P2860
Q33732436-A4645034-D24D-4230-BAA0-8AD5F37F6EABQ33843351-9D9DB318-FD43-4A6D-9147-3758DCDBEFFBQ34222279-6C491FE5-4A44-4CF8-ABC2-B10AB9295A53Q35625257-339CB451-0D4F-4086-85D1-C7D9F271CCA0Q37309149-F0A72B7C-A98D-40B9-BDB6-990D36B233D1Q37324119-473B1052-BA1A-44D9-8C01-6488FC972505Q42965959-7D0C7AEF-E14C-4A7D-898D-4DFEDE20E49FQ46035650-214AE434-1A6A-4FFF-827F-F06BAEA13BB1Q48209127-A571EF30-1955-4F42-B4FE-1A71E430B5CFQ50307397-1CC1F849-B5B0-4B41-B948-705271D9D088Q52054881-7CD57F0E-8CE6-4E08-BDB3-F8C8865FBC42Q52164747-5E4F39AA-ABEC-4E85-B55A-46FF0663DB7A
P2860
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Disialotransferrin developmental deficiency syndrome
@ast
Disialotransferrin developmental deficiency syndrome
@en
type
label
Disialotransferrin developmental deficiency syndrome
@ast
Disialotransferrin developmental deficiency syndrome
@en
prefLabel
Disialotransferrin developmental deficiency syndrome
@ast
Disialotransferrin developmental deficiency syndrome
@en
P2093
P2860
P356
P1476
Disialotransferrin developmental deficiency syndrome
@en
P2093
Andersson M
Kristiansson B
P2860
P356
10.1136/ADC.64.1.71
P407
P577
1989-01-01T00:00:00Z