Failure of D-ribose in myoadenylate deaminase deficiency

Recurrent encephalopathy and generalised seizures associated with relapses of thyrotoxicosis.

International journal of clinical practice·2001

Massive nerve root enlargement in chronic inflammatory demyelinating polyneuropathy.

Journal of neurology, neurosurgery, and psychiatry·1996

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features.

Journal of the neurological sciences·1996

X-linked and FSH dystrophies in one family.

Neuromuscular disorders : NMD·1991

Trigeminal sensory neuropathy. A study of 22 cases.

Brain : a journal of neurology·1987

Myxoedema presenting with chiasmal compression: resolution after thyroxine replacement.

Lancet (London, England)·1987

Use of the bacterial lysate OM-85 for the primary prevention of wheezing lower respiratory illness in preschool children: a randomised, placebo-controlled trial.

Lancet (London, England)·2026

Wealth redistribution policies to mitigate the impact of development assistance defunding: a retrospective evaluation and forecasting analysis up to 2030.

Lancet (London, England)·2026

Induction and consolidation atezolizumab with stereotactic body radiation therapy versus radiation alone in high-risk, early-stage non-small-cell lung cancer (SWOG/NRG S1914): a multicentre, open-label, superiority, phase 3, randomised controlled trial.

Lancet (London, England)·2026

The changing therapeutic landscape of small-cell lung cancer.

Lancet (London, England)·2026

Natural history and clinical impact of epilepsy in adults with Down syndrome: a multicentre clinical study.

Lancet (London, England)·2026

Porcine kidney xenotransplantation as a bridge to allotransplantation: a first-in-human study.

Lancet (London, England)·2026

Diagnostic yield and impact of internal transcribed spacer sequencing from clinical specimens on antifungal management in patients with suspected fungal infection.

Microbiology spectrum·2026

Clinical, epidemiological, and genomic evidence on mpox in mainland China, 2022-2025: a scoping review.

Frontiers in microbiology·2026

Effectiveness of mepolizumab on mucus plugs and clinical outcomes in severe eosinophilic asthma with and without coexisting bronchiectasis: a prospective pilot study.

ERJ open research·2026

Beyond the Diagnosis: A Comprehensive Case Report on Duchenne Muscular Dystrophy.

Case reports in critical care·2026

Letter to the Editor: Less can be more, rethinking colonic biopsy strategies for microscopic colitis in the era of green endoscopy.

World journal of gastrointestinal pharmacology and therapeutics·2026

Navigating the Unknown: Scleroderma Renal Crisis and a Fatal Cardiac Complication in a Young Patient With MCTD With Coexisting Anti-U3 RNP and Anti-RNA Polymerase III Antibodies.

Case reports in rheumatology·2026

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Failure of D-ribose in myoadenylate deaminase deficiency

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Recurrent encephalopathy and generalised seizures associated with relapses of thyrotoxicosis.

Massive nerve root enlargement in chronic inflammatory demyelinating polyneuropathy.

Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features.

X-linked and FSH dystrophies in one family.

Trigeminal sensory neuropathy. A study of 22 cases.

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Failure of D-ribose in myoadenylate deaminase deficiency

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