H. Azzouz

发表

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

S. Abdelhak, L. Romdhane, F. Petit, 2013, Molecular Biology Reports.

Factors predictive of prognosis of infantile spasms. A retrospective study in a low-income country.

H. Azzouz, N. Tebib, R. Ben Abdelaziz, 2019, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

M. Hamzaoui, S. Barsaoui, K. Boussetta, 2017, BMC Pediatrics.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

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

S. Abdelhak, H. Azzouz, N. Tebib, 2018, Journal of pediatric endocrinology & metabolism : JPEM.

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

S. Abdelhak, H. Azzouz, A. B. Chehida, 2018, Neuropediatrics.

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

M. Feki, H. Azzouz, N. Tebib, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

Screening of three Mediterranean phenylketonuria mutations in Tunisian families

S. Abdelhak, H. Azzouz, R. Kefi, 2012, Journal of Genetics.

A novel 22bp deletion in a Tunisian phenylketonuria family.

S. Abdelhak, H. Azzouz, N. Kaabachi, 2012, Pathologie-biologie.

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

T. Meitinger, T. Strom, H. Prokisch, 2016, Journal of hepatology.

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

H. Azzouz, A. B. Chehida, N. Tebib, 2019, Journal of Developmental and Physical Disabilities.

Autism in Phenylketonuria Patients

S. Abdelhak, H. Azzouz, N. Kaabachi, 2016, Journal of child neurology.

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation

S. Abdelhak, M. Nagara, H. Azzouz, 2016, Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis.

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.

S. Abdelhak, L. Romdhane, S. Boubaker, 2013, Gene.

Mutation spectrum of glycogen storage disease type Ia in Tunisia: Implication for molecular diagnosis

S. Abdelhak, F. Ben Rhouma, H. Azzouz, 2007, Journal of Inherited Metabolic Disease.

Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

C. Caillaud, H. Azzouz, A. B. Chehida, 2009, Journal of Perinatology.

Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.

H. Kamoun, L. Keskes, A. Amouri, 2016, Archives of medical research.

Syndrome de Richner-Hanhart

M. Mokni, H. Azzouz, N. Tebib, 2016 .

[Richner-Hanhart syndrome].

M. Mokni, H. Azzouz, N. Tebib, 2016, Presse medicale.

Incidence of mucopolysaccharidoses in Tunisia.

H. Azzouz, N. Kaabachi, M. B. Ben Dridi, 2009, La Tunisie medicale.

First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.

A. Elgaaied, G. Briand, M. Fontaine, 2011, JIMD reports.

Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

I. Ouertani, H. Azzouz, L. Kraoua, 2014 .

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.

K. Voskarides, C. Deltas, S. Abdelhak, 2014, Genetic testing and molecular biomarkers.

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

H. Azzouz, N. Tebib, R. Ben Abdelaziz, 2018, Journal of tropical pediatrics.

A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.

O. Lascols, H. Azzouz, N. Tebib, 2016, European journal of medical genetics.

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

S. Abdelhak, L. Romdhane, F. Petit, 2013, Molecular Biology Reports.

PERINATAL/NEONATAL CASE PRESENTATION Phenotypic continuum of type 2 Gaucher's disease: an intermediate phenotype between perinatal-lethal and classic type 2 Gaucher's disease

C. Caillaud, H. Azzouz, A. B. Chehida, 2009 .

Pancytopenia Revealing Phenylketonuria: Coincidence or First Case Report

M. Bejaoui, R. Doghri, H. Azzouz, 2018 .

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

H. Azzouz, N. Tebib, R. Ben Abdelaziz, 2020, Journal of pediatric endocrinology & metabolism : JPEM.

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

H. Azzouz, A. B. Chehida, N. Tebib, 2019, Journal of Developmental and Physical Disabilities.

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

S. Abdelhak, H. Azzouz, N. Tebib, 2018, Journal of pediatric endocrinology & metabolism : JPEM.