Search details
1.
Mothers' lived experience of caring for children with inborn errors of amino acid metabolism.
BMC Pediatr
; 23(1): 285, 2023 06 07.
Article
in English
| MEDLINE | ID: mdl-37286966
2.
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Hum Mutat
; 43(4): e1-e23, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35005816
3.
Correction: Mothers' lived experience of caring for children with inborn errors of amino acid metabolism.
BMC Pediatr
; 23(1): 309, 2023 Jun 19.
Article
in English
| MEDLINE | ID: mdl-37337157
4.
Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.
Clin Case Rep
; 12(3): e8598, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38481932
5.
Evaluation of the safety and efficacy of biosimilar recombinant growth hormone in children with growth hormone deficiency: non-inferiority, randomized, parallel, multicentric and Phase III trial.
Expert Opin Drug Saf
; : 1-9, 2024 May 08.
Article
in English
| MEDLINE | ID: mdl-38682328
6.
Effects of Trehalose Administration in Patients with Mucopolysaccharidosis Type III.
Curr Med Chem
; 2023 Apr 06.
Article
in English
| MEDLINE | ID: mdl-37038706
7.
Tetrahydrobiopterin responsiveness in Phenylalanine hydroxylase deficient patients from North-east of Iran: Genotype-phenotype correlation, identification of a novel mutation and 7 new responsive genotypes.
Eur J Med Genet
; 65(9): 104536, 2022 Sep.
Article
in English
| MEDLINE | ID: mdl-35690318
8.
Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease-causing variants.
Mol Genet Genomic Med
; 10(12): e2081, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36382472
9.
Impact of Intravenous Trehalose Administration in Patients with Niemann-Pick Disease Types A and B.
J Clin Med
; 11(1)2022 Jan 04.
Article
in English
| MEDLINE | ID: mdl-35011993
10.
Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism
J Clin Res Pediatr Endocrinol
; 14(1): 87-95, 2022 03 03.
Article
in English
| MEDLINE | ID: mdl-34927408
11.
Genotyping of ABCC8, KCNJ11, and HADH in Iranian Infants with Congenital Hyperinsulinism.
Case Rep Endocrinol
; 2021: 8826174, 2021.
Article
in English
| MEDLINE | ID: mdl-34055426
12.
Optimal Frequency to Screen Celiac Disease amongst Patients with Type 1 Diabetes Mellitus: A Multicenter Study.
Prim Care Diabetes
; 15(6): 1100-1103, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34503936
13.
Recommendations for Infantile-Onset and Late-Onset Pompe Disease: An Iranian Consensus.
Front Neurol
; 12: 739931, 2021.
Article
in English
| MEDLINE | ID: mdl-34621239
14.
Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial.
J Pediatr Endocrinol Metab
; 32(8): 885-888, 2019 Aug 27.
Article
in English
| MEDLINE | ID: mdl-31237861
15.
Niemann-Pick Diseases: The Largest Iranian Cohort with Genetic Analysis.
Iran J Child Neurol
; 13(2): 155-162, 2019.
Article
in English
| MEDLINE | ID: mdl-31037088
16.
Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.
Adv Med Sci
; 63(1): 87-93, 2018 Mar.
Article
in English
| MEDLINE | ID: mdl-28957739
17.
Noonan syndrome - a new survey.
Arch Med Sci
; 13(1): 215-222, 2017 Feb 01.
Article
in English
| MEDLINE | ID: mdl-28144274
18.
The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran.
Iran J Child Neurol
; 11(3): 53-56, 2017.
Article
in English
| MEDLINE | ID: mdl-28883878
19.
Non-thyroidal illness syndrome and cardiopulmonary bypass in children with congenital heart disease.
Caspian J Intern Med
; 5(4): 235-42, 2014.
Article
in English
| MEDLINE | ID: mdl-25489437
Results
1 -
19
de 19
1
Next >
>>