Publications by authors named "Samar Rahhal"

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Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome.
Garrett R Bowman, Samar N Rahhal, Forbes D Porter

Am J Med Genet A· December 2025

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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Judith S Miller, Cristan Farmer, Susan Blair, Simona Bianconi, Natacha Akshoomoff, Samar Rahhal

Pediatr Neurol· October 2025

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Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic Interventions.
Niamh X Cawley, Ruyu Zhou, Nicole M Farhat, James Iben, Derek M Alexander, Samar Rahhal

J Inherit Metab Dis· March 2025

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Assessing Postnatal Mortality in Smith-Lemli-Opitz Syndrome.
Aishwarya Selvaraman, Samar Rahhal, Simona Bianconi, Tristan Furnary, Forbes D Porter

Am J Med Genet A· February 2025

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Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndrome.
Rachel A Luke, Niamh X Cawley, Samar Rahhal, Aishwarya Selvaraman, Audrey Thurm

Mol Genet Metab· October 2024

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Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
Myriam Abdennadher, Sara K Inati, Samar Rahhal, Omar Khan, Luca Bartolini

Am J Med Genet A· February 2024

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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley

Mol Genet Metab Rep· December 2023

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Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley

Mol Genet Metab Rep· December 2023

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Clinical Versus Objective Assessment of Overweight and Obese Children Among Primary Care Physicians.
Anisha Gohil, Shannon James, Samar Rahhal

Glob Pediatr Health· July 2017

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Results of a second year of therapy with the 12-month histrelin implant for the treatment of central precocious puberty.
Samar Rahhal, William L Clarke, Gad B Kletter, Peter A Lee, E Kirk Neely

Int J Pediatr Endocrinol· July 2011

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Bicalutamide and third-generation aromatase inhibitors in testotoxicosis.
Anne M Lenz, Dorothy Shulman, Erica A Eugster, Samar Rahhal, John S Fuqua

Pediatrics· September 2010

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The impact of assay sensitivity in the assessment of diseases and disorders in children.
Samar N Rahhal, John S Fuqua, Peter A Lee

Steroids· December 2008

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Thyroid stimulating immunoglobulin is often negative in children with Graves' disease.
Samar N Rahhal, Erica A Eugster

J Pediatr Endocrinol Metab· November 2008

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Unexpected recovery of ovarian function many years after bone marrow transplantation.
Samar N Rahhal, Erica A Eugster

J Pediatr· February 2008

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