Found: 16
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Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment.
- Published in:
- Annals of Human Genetics, 2024, v. 88, n. 3, p. 194, doi. 10.1111/ahg.12542
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- Publication type:
- Article
A Case of Infantile Cataract and Neonatal Hypoglycemia.
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- Journal of Current Ophthalmology, 2023, v. 35, n. 3, p. 291, doi. 10.4103/joco.joco_353_22
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- Publication type:
- Article
Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b.
- Published in:
- Diabetology & Metabolic Syndrome, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13098-023-01065-2
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- Article
Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 8, p. 1057, doi. 10.1515/jpem-2020-0025
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- Publication type:
- Article
Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia).
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- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 7, p. 901, doi. 10.1515/jpem-2020-0035
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- Publication type:
- Article
Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria.
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- Journal of Developmental & Physical Disabilities, 2019, v. 31, n. 6, p. 753, doi. 10.1007/s10882-019-09674-4
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- Article
High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness.
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- 2019
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- Publication type:
- journal article
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
- Published in:
- Genetics Research, 2019, v. 101, p. N.PAG, doi. 10.1017/S0016672319000041
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- Publication type:
- Article
Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study.
- Published in:
- 2018
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- Publication type:
- journal article
A lower energetic, protein and uncooked cornstarch intake is associated with a more severe outcome in glycogen storage disease type III: an observational study of 50 patients.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2018, v. 31, n. 9, p. 979, doi. 10.1515/jpem-2018-0151
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- Publication type:
- Article
Peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study.
- Published in:
- 2017
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- Publication type:
- journal article
Renal Involvement in 2 Siblings With Cockayne Syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Renal Involvement in 2 Siblings With Cockayne Syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 6, p. 547, doi. 10.1007/s10875-016-0299-9
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- Publication type:
- Article
A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.
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- Biochemistry & Cell Biology, 2016, v. 94, n. 3, p. 265, doi. 10.1139/bcb-2015-0168
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- Publication type:
- Article
Molecular Characterization of X-Linked Adrenoleukodystrophy in a Tunisian Family: Identification of a Novel Missense Mutation in the ABCD1 Gene.
- Published in:
- Neurodegenerative Diseases, 2013, v. 12, n. 4, p. 207, doi. 10.1159/000346680
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- Publication type:
- Article