Results 221 to 230 of about 82,705 (288)

The Sphingolipid Balance and Endothelial Dysfunction in Lysosomal Storage Diseases: Shared Mechanisms in Gaucher, Niemann-Pick and Fabry Disease. [PDF]

Int J Mol Sci
Nekrasova A, Kutsev S, Shestopalov A.
europepmc   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

A Rare Case of Fabry Disease Combined With Idiopathic Multicentric Castleman Disease and Membranous Nephropathy. [PDF]

Kidney Med
Oka M, Suzuki R, Akasaka T.
europepmc   +1 more source

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose‐6‐Phosphorylation and Cellular Uptake of Aspartylglucosaminidase

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Aspartylglucosaminuria (AGU) is a lysosomal storage disorder caused by a deficiency of aspartylglucosaminidase (AGA), a hydrolase involved in the degradation of N‐glycosylated proteins. Currently, no approved therapies are available for AGU. Development of enzyme replacement therapy (ERT) for AGU has been hampered by the complex proteolytic ...
Antje Banning, Lidia Reznikova, Adla Murad, Ritva Tikkanen   +3 more
wiley   +1 more source

Characterization of Adult Patients With Neurometabolic Disorders: A Cross‐Sectional Study at a Tertiary Neurology Center in Sweden

JIMD Reports, Volume 67, Issue 5, September 2026.
ABSTRACT Adult patients with inherited metabolic diseases are often overlooked. Limited data on this population hinder adequate planning of their clinical and social care. In this retrospective, observational, cross‐sectional service evaluation study, we reviewed the electronic medical records of adult patients with inherited neurometabolic diseases ...
Boel Ernerdahl, Ashraf Yahia, Andreas Puschmann   +2 more
wiley   +1 more source

Newborn screening for Fabry disease in Japan: an additional 3-year report. [PDF]

Mol Genet Metab Rep
Sawada T, Kido J, Sugawara K, Yoshida S, Inoue T, Hirose S, Nakamura K.   +6 more
europepmc   +1 more source

Closer to danger: Southern Ocean pteropods build their shells deeper in the water column during winter–spring

Limnology and Oceanography, Volume 71, Issue 9, September 2026.
Abstract Shelled pteropods are at risk from ocean acidification, with known effects on their shell durability and calcification. Pteropods typically form their aragonitic shells over specific depth ranges known as the “calcification depth,” which varies depending on species and habitats.
Pimnara Riengchan, Christine K. Weldrick, Zanna Chase, Christian Dietz, Kerrie M. Swadling   +4 more
wiley   +1 more source

Evaluating the relationship between antidrug antibodies and efficacy and safety outcomes in patients with Fabry disease receiving enzyme replacement therapy: a systematic literature review. [PDF]

Orphanet J Rare Dis
Aguiar P, Bernat JA, Hughes D.
europepmc   +1 more source

Stage‐specific vulnerability: Ocean acidification and hypoxia impair copepod recruitment through a naupliar bottleneck

Limnology and Oceanography Letters, Volume 11, Issue 5, September 2026.
Abstract Progressive ocean acidification and deoxygenation are expected to threaten many marine zooplankton, but their combined effects across life stages remain poorly understood. We investigated stage‐specific responses of the egg‐carrying copepod Pseudodiaptomus annandalei to changes in pHT (5.97–8.05) and dissolved oxygen (DO; 0.90–8.20 mg L−1 ...
Weijia Chen, Kunshan Gao
wiley   +1 more source

Persistent Hematuria and Proteinuria in a Patient with SLE Nephritis. [PDF]

Kidney360
Singh T, Panzer SE, Garg S.
europepmc   +1 more source