0000000000591719

AUTHOR

Robin H. Lachmann

0000-0002-2618-2581

showing 2 related works from this author

Issues with European guidelines for phenylketonuria

2017

medicine.medical_specialtybusiness.industryPhenylketonuriasEndocrinology Diabetes and MetabolismMEDLINE610 Medicine & health1310 Endocrinology03 medical and health sciences2712 Endocrinology Diabetes and Metabolism0302 clinical medicineEndocrinology10036 Medical Clinic2724 Internal MedicineFamily medicinePhenylketonuriasInternal MedicineMedicineHumans030212 general & internal medicinebusiness030217 neurology & neurosurgery
researchProduct

Cognitive dysfunction and depression in Fabry disease: a systematic review.

2013

Background Fabry disease, an X-linked lysosomal storage disorder, leads to multi-organ dysfunction, including cerebrovascular disease and psychological disorders. However, the prevalence and pattern of associated cognitive dysfunction is not well understood. Objectives To investigate whether there is reliable evidence for neuropsychological impairment in patients with Fabry disease and which cognitive domains are affected. To estimate the prevalence of and factors associated with depression in patients with Fabry disease. Method Qualitative systematic review of the literature of studies conducting neuropsychological assessment or measuring the prevalence of depression in adults with Fabry d…

AdultMalePathologymedicine.medical_specialtyNeuropsychological TestsYoung AdultBorderline intellectual functioningPrevalenceGeneticsmedicineHumansNeuropsychological assessmentCognitive skillGenetics (clinical)Depression (differential diagnoses)medicine.diagnostic_testDepressionbusiness.industryNeuropsychologyCognitionFabry disease cognitionMiddle Agedmedicine.diseaseFabry diseaseMeta-analysisFabry DiseaseCognition DisordersbusinessClinical psychology
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