Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease

Central European 2018 hot drought shifts scots pine forest to its tipping point.

Plant biology (Stuttgart, Germany)·2022

Multiple Sclerosis Performance Test: validation of self-administered neuroperformance modules.

European journal of neurology·2020

Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only.

Annals of hematology·2015

siRNA screening identifies differences in the Fanconi anemia pathway in BALB/c-Trp53+/- with susceptibility versus C57BL/6-Trp53+/- mice with resistance to mammary tumors.

Oncogene·2013

Shared Copy Number Variation in Simultaneous Nephroblastoma and Neuroblastoma due to Fanconi Anemia.

Molecular syndromology·2012

Elevated cerebrospinal fluid sphingomyelin levels in prodromal Alzheimer's disease.

Neuroscience letters·2012

Strengthening health systems to prioritise, provide care, and prevent osteoarthritis: a roadmap for global health policy.

Lancet (London, England)·2026

Addressing threats to future global health-what is the right timeframe?

Lancet (London, England)·2026

Conversational diagnostic artificial intelligence in ambulatory primary care: a prospective feasibility study.

Lancet (London, England)·2026

Oral deucrictibant for on-demand treatment of hereditary angioedema attacks: a phase 3, multicentre, randomised, double-blind, placebo-controlled crossover trial.

Lancet (London, England)·2026

The infrapatellar fat pad-synovium immunometabolic interface in knee osteoarthritis: a local amplifier of joint inflammation.

Frontiers in immunology·2026

Pediatric lymphomatoid papulosis: a broad clinicopathologic spectrum including rare variants in a single-center case series.

Frontiers in medicine·2026

A large iliopsoas abscess due to migration of ureteral stent: a case report.

Frontiers in surgery·2026

Coexisting adrenal hemangioma and aldosterone-producing micronodule presented as adrenal incidentaloma.

JCEM case reports·2026

Topical Tacrolimus in Ocular Disease: A Narrative Review of Mechanism of Action and Therapeutic Applications.

Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics·2026

Artificial intelligence in central nervous system autoimmune diseases: from clinical decision support to mechanistic discovery and translation.

EMBO molecular medicine·2026

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Lysosomal alpha-N-acetylgalactosaminidase deficiency: a new inherited metabolic disease

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Central European 2018 hot drought shifts scots pine forest to its tipping point.

Multiple Sclerosis Performance Test: validation of self-administered neuroperformance modules.

Outcomes of mismatched and unrelated donor hematopoietic stem cell transplantation in Fanconi anemia conditioned with chemotherapy only.

siRNA screening identifies differences in the Fanconi anemia pathway in BALB/c-Trp53+/- with susceptibility versus C57BL/6-Trp53+/- mice with resistance to mammary tumors.

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