TY  - JOUR
AU  - Kožich, Viktor
AU  - Sokolová, Jitka
AU  - Morris, Andrew A M
AU  - Pavlíková, Markéta
AU  - Gleich, Florian
AU  - Kölker, Stefan
AU  - Krijt, Jakub
AU  - Dionisi-Vici, Carlo
AU  - Baumgartner, Matthias R
AU  - Blom, Henk J
AU  - Huemer, Martina
AU  - E-HOD consortium
PY  - 2020
DO  - 10.1002/jimd.12338
UR  - https://hdl.handle.net/10668/27445
T2  - Journal of inherited metabolic disease
AB  - Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We...
LA  - en
KW  - developmental delay
KW  - homocystinuria
KW  - methionine
KW  - natural history
KW  - patient registry
KW  - thromboembolism
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Child, Preschool
KW  - Cystathionine beta-Synthase
KW  - Delayed Diagnosis
KW  - Europe
KW  - Female
KW  - Homocystinuria
KW  - Humans
KW  - Infant
KW  - Linear Models
KW  - Male
KW  - Methionine
KW  - Middle Aged
KW  - Phenotype
KW  - Pyridoxine
KW  - Registries
KW  - Severity of Illness Index
KW  - Young Adult
TI  - Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
TY  - research article
VL  - 44
ER  -