Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

Journal of inherited metabolic disease - 1 Sept 2017

Bellusci M, Quijada-Fraile P, Barrio-Carreras D, Martin-Hernandez E, Garcia-Silva M, Merinero B, Perez B, Hernandez-Lain A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carnitine O-Palmitoyltransferase
Share to Fatty Acids, Nonesterified
Share to Hypoglycemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipid Metabolism, Inborn Errors

Share to Lipids

Share to Microscopy, Electron

Share to Oxygen

Share to Vacuoles

Source

Identifiers

PMID: 28466427
DOI: 10.1007/s10545-017-0041-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.PMID 28466427Read ↗

Late Diagnosis of Adult-Onset Carnitine Palmitoyltransferase II Deficiency in a 63-Year-Old Man Presenting with Recurrent Rhabdomyolysis: A Case ReportSemantic proximity Read ↗

Biochemical and molecular studies of carnitine palmitoyltransferase II deficiency with hepatocardiomyopathic presentation.Semantic proximity Read ↗

[Rhabdomyolysis in carnitine palmitoyltransferase II deficiency: developments in pathophysiology, diagnosis and therapy].Semantic proximity Read ↗

Carnitine palmityl transferase I deficiency.Semantic proximity Read ↗

Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect.Semantic proximity Read ↗

Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.Semantic proximity Read ↗

Carnitine palmitoyltransferase type 2 deficiency: novel mutation in a Native South American family with whole-body muscle magnetic resonance imaging findings: two case reports.Semantic proximity Read ↗

Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.Semantic proximity Read ↗

Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.Semantic proximity Read ↗

Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.Semantic proximity Read ↗

Repeated and progressive rhabdomyolysis due to a novel carnitine palmitoyltransferase II gene variant in an adult male: A case report.Semantic proximity Read ↗

[Myoglobinuria and carnitine palmitoyltransferase deficiency. Diagnostic procedure and differential diagnosis].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.