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Peymaneh Sarkhail
Observed names:
Sarkhail P,
Sarkhail, P,
Sarkhail, Peymaneh
Observed institution:
Generation Foundation
OpenAlex ID:
A5019600249
International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up
2019
·
Ruqaiah Altassan
, Romain Péanne
, et al.
·
Journal of Inherited Metabolic Disease
·
149
Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives
2022
·
Ana Piedade
, Rita Francisco
, et al.
·
Journal of Rare Diseases
·
28
PDF
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion)
2022
·
Saeed R. Ghaffari
, Maryam Rafati
, et al.
·
Human Mutation
·
6
PDF
An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1
2021
·
Samira Kalayinia
, Saeed Talebi
, et al.
·
International Journal of Endocrinology
·
2
PDF
The First Iranian Case of N-acetyl-glutamate Synthase (NAGS) Deficiency Treated with N-carbamylglutamate
2016
·
Fatemeh Sayarifard
, F Hadipour
, et al.
·
American Journal of Medical Case Reports
·
1
Iranian Case of N-acetyl-glutamate Synthase (NAGS) Deficiency Treated with N-carbamylglutamate: A Novel Approach
2024
·
Sayarifard F
, Hadipour F
, et al.
·
Book Publisher International (a part of SCIENCEDOMAIN International)
Impact of body mass index and waist circumference on coronary artery disease risk factors in Iranian children and adolescents
2008
·
Peymaneh Sarkhail
, Farzad Hadaegh
, et al.
·
Hormone Research in Paediatrics
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Works count:
12
Citation count:
186
H-index:
3
I10-index:
2
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