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Systemic primary carnitine deficiency with hypoglycemic encephalopathy

Published:2016 Issue:4 Volume:21 Page:226
ISSN:2287-1012
Container-title:Annals of Pediatric Endocrinology & Metabolism
language:en
Short-container-title:Ann Pediatr Endocrinol Metab

Author:

Jun Jae Sung¹,Lee Eun Joo²,Park Hyung Doo³,Kim Hae Sook¹^ORCID

Affiliation:

1. Department of Pediatrics, Fatima Hospital, Daegu, Korea.

2. Department of Pediatrics, Daegu Catholic University Hospital, Daegu Catholic University College of Medicine, Daegu, Korea.

3. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Seoul, Korea.

Publisher

Korean Society of Pediatric Endocrinology

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://synapse.koreamed.org/pdf/10.6065/apem.2016.21.4.226

Reference12 articles.

1. Carnitine deficiency

2. Carnitine Deficiency Disorders in Children

3. Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: Lack of genotype-phenotype correlation

4. Carnitine-Associated Encephalopathy Caused by Long-term Treatment With an Antibiotic Containing Pivalic Acid

5. Alteration of Ammonia and Carnitine Levels in Short-Term Treatment with Pivalic Acid-Containing Prodrug.

Cited by 12 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Rare Case Report of Hypoketotic Hypoglycemia Induced Seizures Due to Secondary Carnitine Deficiency In a 44-year-old Female;Journal of Community Hospital Internal Medicine Perspectives;2024-05-07

2. Pharmacogenetic Analysis of an 8-Year Old Girl with Reye Syndrome Associated with Use of Naproxen;AM J CASE REP;2024

3. A report of a pedigree with compound heterozygous mutations in the SLC22A5 gene;Frontiers in Pediatrics;2023-06-06

4. Clinical and Gene Analysis of Fatty Acid Oxidation Disorders Found in Neonatal Tandem Mass Spectrometry Screening;Pharmacogenomics and Personalized Medicine;2023-06

5. Role of carnitine in regulation of blood pressure (MAP/SBP) and gene expression of cardiac hypertrophy markers (α/β‐MHC) during insulin‐induced hypoglycaemia: Role of oxidative stress;Clinical and Experimental Pharmacology and Physiology;2020-12-27

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