TY  - JOUR
AU  - Guffon, N
AU  - Tylki-Szymanska, A
AU  - Borgwardt, L
AU  - Lund, A M
AU  - Gil-Campos, M
AU  - Parini, R
AU  - Hennermann, J B
PY  - 2019
DO  - 10.1016/j.ymgme.2019.01.024
UR  - http://hdl.handle.net/10668/13604
T2  - Molecular genetics and metabolism
AB  - Alpha-mannosidosis is an ultra-rare progressive lysosomal storage disorder caused by deficiency of alpha-mannosidase. Timely diagnosis of the disease has the potential to influence patient outcomes as preventive therapies can be initiated at an early...
LA  - en
PB  - Elsevier
KW  - Algorithm
KW  - Alpha-mannosidosis
KW  - Diagnosis
KW  - Lysosomal storage disorder
KW  - Symptoms
KW  - Adolescent
KW  - Adult
KW  - Age Factors
KW  - Algorithms
KW  - Child
KW  - Child, Preschool
KW  - Consensus
KW  - Disease Progression
KW  - Humans
KW  - Internationality
KW  - Middle Aged
KW  - Young Adult
KW  - alpha-Mannosidosis
TI  - Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.
TY  - research article
VL  - 126
ER  -