Found: 23
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Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 5, p. 380, doi. 10.1177/08830738221078683
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- Publication type:
- Article
Levetiracetam and Midazolam vs Midazolam Alone for First-Line Treatment of Children With Generalized Convulsive Status Epilepticus (Lev-Mid Study): A Randomized Controlled Trial.
- Published in:
- Indian Pediatrics, 2023, v. 60, n. 8, p. 630, doi. 10.1007/s13312-023-2960-8
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- Publication type:
- Article
Impact of COVID-19 pandemic and related isolation measures on violence against children in Egypt.
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- Journal of the Egyptian Public Health Association, 2021, v. 96, n. 1, p. 1, doi. 10.1186/s42506-021-00071-4
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- Publication type:
- Article
Characterization and outcome of 11 children with non-diabetic ketoacidosis.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 1, p. 95, doi. 10.1515/jpem-2020-0324
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- Publication type:
- Article
A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 15, doi. 10.1002/jmd2.12041
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- Publication type:
- Article
Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2019, v. 46, n. 1, p. 23, doi. 10.1002/jmd2.12022
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- Publication type:
- Article
The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00579-2
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- Publication type:
- Article
Pattern of hereditary renal tubular disorders in Egyptian children.
- Published in:
- Turkish Journal of Pediatrics, 2023, v. 65, n. 4, p. 611, doi. 10.24953/turkjped.2022.688
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- Publication type:
- Article
Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations.
- Published in:
- Experimental & Therapeutic Medicine, 2020, v. 20, n. 5, p. N.PAG, doi. 10.3892/etm.2020.9166
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- Publication type:
- Article
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 5, p. 4906, doi. 10.3892/mmr.2016.5819
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- Publication type:
- Article
Serum Levels of Interleukins 6 And 8 In Malnourished Children with Acute Diarrhea: A Case-Control Study.
- Published in:
- Egyptian Journal of Hospital Medicine, 2024, v. 94, n. 1, p. 305, doi. 10.21608/ejhm.2024.337169
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- Publication type:
- Article
Serum Levels of Leptin and Adiponectin in Children with Febrile Seizures: A Case-Control Study.
- Published in:
- Egyptian Journal of Hospital Medicine, 2023, v. 90, n. 1, p. 1494, doi. 10.21608/ejhm.2023.282376
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- Publication type:
- Article
Characterization of 42 Egyptian Children with Lysosomal Storage Disorders.
- Published in:
- Egyptian Journal of Hospital Medicine, 2022, v. 88, p. 3069, doi. 10.21608/ejhm.2022.244542
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- Publication type:
- Article
Deficiency of 3‐hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 960, doi. 10.1002/jimd.12243
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- Publication type:
- Article
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 845, doi. 10.1007/s10545-017-0065-z
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- Publication type:
- Article
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
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- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 3, p. 395, doi. 10.1007/s10545-017-0026-6
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- Publication type:
- Article
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 2, p. 177, doi. 10.1002/mgg3.275
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- Publication type:
- Article
Frequency of CD40‐1C>T polymorphism (rs1883832) and association with response to treatment in children with primary immune thrombocytopenia.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 12, p. 1, doi. 10.1002/pbc.31356
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- Publication type:
- Article
Frequency of toll‐like receptor 4 variants and association with treatment response in children with primary immune thrombocytopenia.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 11, p. 1, doi. 10.1002/pbc.30646
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- Publication type:
- Article
Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.
- Published in:
- Tohoku Journal of Experimental Medicine, 2016, v. 240, n. 4, p. 323, doi. 10.1620/tjem.240.323
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- Publication type:
- Article
Nebulized Magnesium Sulfate for Treatment of Persistent Pulmonary Hypertension of Newborn: A Pilot Randomized Controlled Trial.
- Published in:
- Indian Journal of Pediatrics, 2021, v. 88, n. 8, p. 771, doi. 10.1007/s12098-020-03643-y
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- Publication type:
- Article
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency.
- Published in:
- Human Mutation, 2019, v. 40, n. 10, p. 1641, doi. 10.1002/humu.23831
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- Publication type:
- Article
Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature.
- Published in:
- 2017
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- Publication type:
- Case Study