β-Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy.

Deficiency of the enzyme β-galactosidase due to variants in the -gene is associated with metabolic disorders: Morquio B and GM1-gangliosidosis. Here, we report a case compound heterozygous for variants in the -gene and a severe muscular phenotype. Full body T1-w MRI was conducted for muscular involvement.

Allogenic hematopoietic stem cell transplantation in two siblings with adult metachromatic leukodystrophy and a systematic literature review.

Two siblings were diagnosed with adult metachromatic leukodystrophy (MLD) and treated with hematopoietic stem cell transplantation (HSCT). While the older sibling was symptomatic at the time of diagnosis, her younger brother was diagnosed and transplanted at the presymptomatic state. We describe patients' clinical, biochemical, and genetic features, as well as neuropsychological and neurophysiological test results, and brain magnetic resonance imaging from pretransplantation and posttransplantation assessments.

Convenient Entry to F-Labeled Amines through the Staudinger Reduction.

Fluorine-18 possesses outstanding decay characteristics for positron emission tomography (PET) imaging. Therefore, it is ideally suited for clinical applications. As such, improved strategies to incorporate fluorine-18 into bioactive molecules are of utmost importance.

Reconfiguring clinical communication in the electronic counselling context: The nuances of disruption.

Aim: This study expands on an earlier study about diabetes nurses' experiences of the Guided Self-Determination intervention in face-to-face consultations among people with type 2 diabetes. This current study investigates Guided Self-Determination in an electronic format with the aim to explore what can be learned about the written form for health communication from the perspectives of diabetes nurses in primary care.

Design: The study has an explorative, qualitative design.

Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in .

Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism in asymptomatic parents as verified mosaicism highly increases recurrence risk.