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Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia

Archives of disease in childhood, 2021-03, Vol.106 (3), p.311-311

2021

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Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b

Diabetology and metabolic syndrome, 2023-04, Vol.15 (1), p.86-86, Article 86

2023

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Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria

Journal of developmental and physical disabilities, 2019-12, Vol.31 (6), p.753-776

2019

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Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient

Neuroscience research, 2015-08, Vol.97, p.7-12

2015

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Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study

BMC pediatrics, 2017-12, Vol.17 (1), p.1-11, Article 208

2017

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Three siblings with gyrate atrophy of the choroid and retina: a case report

International journal of ophthalmology, 2023-12, Vol.16 (12), p.2133-2135

2023

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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

Annals of human genetics, 2024-05, Vol.88 (3), p.194-211

2024

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Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease

Journal of pediatric hematology/oncology, 2020-05, Vol.42 (4), p.310-312

2020

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Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)

Journal of Pediatric Endocrinology and Metabolism, 2020-07, Vol.33 (7), p.901-913

2020

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Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients

Neuropediatrics, 2020-10, Vol.51 (5), p.349-353

2020

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Renal Involvement in 2 Siblings With Cockayne Syndrome

Iranian journal of kidney diseases, 2017-05, Vol.11 (3), p.253

2017

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High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness

Journal of tropical pediatrics (1980), 2019-06, Vol.65 (3), p.217-223

2019

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Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study

BMC pediatrics, 2018-09, Vol.18 (1), p.307-307, Article 307

2018

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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Genetics Research, 2019-04, Vol.101, p.e6-e6, Article e6

2019

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A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease

Biochemistry and cell biology, 2016-06, Vol.94 (3), p.265-269

2016

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1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance

Clinical laboratory (Heidelberg), 2015, Vol.61 (12), p.1973

2015

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First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance

JIMD Reports - Case and Research Reports, 2011/1, 2011-01, Vol.1, p.37-38

2011

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Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

Molecular biology reports, 2013-07, Vol.40 (7), p.4197-4202

2013

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Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques : Caractéristiques cliniques d’une série pédiatrique tunisienne

Tunisie Medicale, 2024-05, Vol.102 (5)

2024

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Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques: Caractéristiques cliniques d’une série pédiatrique tunisienne

Tunisie Medicale, 2023-05, Vol.102 (5), p.284-288

2023

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Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study

Journal of Pediatric Endocrinology and Metabolism, 2020-08, Vol.33 (8), p.1057-1064

2020

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A Case of Infantile Cataract and Neonatal Hypoglycemia

Journal of current ophthalmology, 2023-07, Vol.35 (3), p.291-293

2023

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Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients

Neuropediatrics, 2019-02, Vol.50 (1), p.22-30

2019

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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

Journal of Pediatric Endocrinology and Metabolism, 2018-09, Vol.31 (9), p.979-986

2018

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Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome

Archives of medical research, 2016-02, Vol.47 (2), p.105-110

2016

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Non-ketotic hyperglycinaemia: a frequent, but poorly diagnosed and managed genetic disorder in Tunisia

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b

Self-Reported Anxiety, Depression and Coping in Parents of Children with Phenylketonuria

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient

Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study

Three siblings with gyrate atrophy of the choroid and retina: a case report

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

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease

Quality of life and associated factors in parents of children with late diagnosed phenylketonuria. A cross sectional study in a developing country (Tunisia)

Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients

Renal Involvement in 2 Siblings With Cockayne Syndrome

High Frequency of Cardiovascular Complications in Tunisian Kawasaki Disease Patients: Need for a Further Awareness

Correction to: Full title: peripheral venous catheter complications in children: predisposing factors in a multicenter prospective cohort study

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease

1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance

First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques : Caractéristiques cliniques d’une série pédiatrique tunisienne

Mutation delTTCT 1471 de l’intolérance aux protéines dibasiques: Caractéristiques cliniques d’une série pédiatrique tunisienne

Morning specimen is not representative of metabolic control in Tunisian children with phenylketonuria: a repeated cross-sectional study

A Case of Infantile Cataract and Neonatal Hypoglycemia

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients

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

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome

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