Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative
lysosomal storage disorders that is characterized by childhood dementia. The clinical …

Lysosomal storage disorders are rare multiorgan, degenerative conditions requiring
invasive treatment. Rare disorders pose unique challenges; therefore, exploring their impact …

Background We sought to understand the experiences of parents/caregivers of children with
inherited metabolic diseases (IMD) in order to inform strategies for supporting patients and …

Background Patient-centered health care for children with inborn errors of metabolism (IEM)
and their families is important and requires an understanding of patient experiences, needs …

Background In recent decades, considerable progress in diagnosis and treatment of patients
with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders …

Background Maple syrup urine disease (MSUD) is a rare disease that requires a protein‐
restricted diet for successful management. Little is known, however, about the psychosocial …

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial
challenges. An increased understanding and awareness of these stressors can ensure …

Fabry disease (FD) is a genetic X-linked, multisystemic, progressive lysosomal storage
disorder (LSD). Depression has emerged as a disease complication, with prevalence …

Objective To investigate the determinants of quality of life (QoL) in children with inborn errors
of metabolism with restricted diet (IEMRDs) using a single theory-based multidimensional …

Aims The purpose of this study is assess the association between mother's Sense of
Coherence (SOC) and the oral health status of children with and without …