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Orphanet Journal of Rare Diseases
|
December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Can Ficicioglu, Dena R Matalon, Nicole Luongo, et al.
Clinical Imaging
|
March 3, 2020
Gaucher disease status and treatment assessment: pilot study using magnetic resonance spectroscopy bone marrow fat fractions in pediatric patients
Andrew J Degnan, Victor M Ho-Fung, Dah-Jyuu Wang, et al.
Pediatric Neurology
|
August 1, 2014
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy
Kristin E D'Aco, David Bearden, David Watkins, et al.
Journal of Pediatric Genetics
|
February 19, 2019
Failure to Thrive: An Expanded Differential Diagnosis
Alexandra Lazzara, Carrie Daymont, Roger Ladda, et al.
Molecular Genetics and Metabolism
|
January 4, 2022
Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database
Can Ficicioglu, Ning Liu, Qin Sun, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
Rebecca C Ahrens-Nicklas, Rebecca D Ganetzky, Peggy W Rush, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 3, 2012
Long-term follow-up of four patients affected by HHH syndrome
Sook Z Kim, Wung J Song, William L Nyhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2022
The current state of adult metabolic medicine in the United States: Results of a nationwide survey
Jessica I Gold, Nina B Gold, Alanna Strong, et al.
Journal of Clinical Neurology (Seoul, Korea)
|
July 30, 2013
A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation
Can Ficicioglu, Jacob G Dubroff, Nina Thomas, et al.
Molecular Genetics and Metabolism
|
March 1, 2015
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience
Nicola Longo, Georgianne L Arnold, Gabriella Pridjian, et al.
Page
of 11
Search research articles
Search
Showing results (41-50 of 110) with videos related to
Sort By:
Page
of 11
Orphanet Journal of Rare Diseases
|
December 1, 2020
Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study
Can Ficicioglu, Dena R Matalon, Nicole Luongo, et al.
Clinical Imaging
|
March 3, 2020
Gaucher disease status and treatment assessment: pilot study using magnetic resonance spectroscopy bone marrow fat fractions in pediatric patients
Andrew J Degnan, Victor M Ho-Fung, Dah-Jyuu Wang, et al.
Pediatric Neurology
|
August 1, 2014
Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy
Kristin E D'Aco, David Bearden, David Watkins, et al.
Journal of Pediatric Genetics
|
February 19, 2019
Failure to Thrive: An Expanded Differential Diagnosis
Alexandra Lazzara, Carrie Daymont, Roger Ladda, et al.
Molecular Genetics and Metabolism
|
January 4, 2022
Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database
Can Ficicioglu, Ning Liu, Qin Sun, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening
Rebecca C Ahrens-Nicklas, Rebecca D Ganetzky, Peggy W Rush, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 3, 2012
Long-term follow-up of four patients affected by HHH syndrome
Sook Z Kim, Wung J Song, William L Nyhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2022
The current state of adult metabolic medicine in the United States: Results of a nationwide survey
Jessica I Gold, Nina B Gold, Alanna Strong, et al.
Journal of Clinical Neurology (Seoul, Korea)
|
July 30, 2013
A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation
Can Ficicioglu, Jacob G Dubroff, Nina Thomas, et al.
Molecular Genetics and Metabolism
|
March 1, 2015
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience
Nicola Longo, Georgianne L Arnold, Gabriella Pridjian, et al.
Page
of 11