TY - JOUR AU - Morrison, T. AU - Bösch, F. AU - Landolt, M. A. AU - Kožich, V. AU - Huemer, M. AU - Morris, A. A. M. PY - 2021 DA - 2021/03/10 TI - Homocystinuria patient and caregiver survey: experiences of diagnosis and patient satisfaction JO - Orphanet Journal of Rare Diseases SP - 124 VL - 16 IS - 1 AB - The main genetic causes of homocystinuria are cystathionine beta-synthase (CBS) deficiency and the remethylation defects. Many patients present in childhood but milder forms may present later in life. Some countries have newborn screening programs for the homocystinurias but these do not detect all patients. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-021-01764-x DO - 10.1186/s13023-021-01764-x ID - Morrison2021 ER -