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Janet A Thomas

Showing results (1-10 of 26) with videos related to

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Current Opinion in Pediatrics|September 20, 2011
The patient with infantile seizuresLea K Parsley, Janet A Thomas
Molecular Genetics and Metabolism|February 8, 2012
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patientsPatricia Gordon, Janet A Thomas, Ruth Suter, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis IJanet A Thomas, Michael Beck, Joe T R Clarke, et al.
Pediatric Radiology|December 20, 2012
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiencyNicholas V Stence, Curtis R Coughlin, Laura Z Fenton, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|September 24, 2019
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain LesionsAhmed Gilani, Johan Lk Van Hove, Janet A Thomas, et al.
Molecular Genetics and Metabolism|November 27, 2012
Impact of geographic access to care on compliance and metabolic control in phenylketonuriaCynthia Freehauf, Johan L K Van Hove, Dexiang Gao, et al.
Journal of Inherited Metabolic Disease|May 9, 2018
In memoriamJohan L K Van Hove, Janet A Thomas, Peter R Baker, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patientLiangwu Sun, Erik A Eklund, Johan L K Van Hove, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbanceAnne Chun-Hui Tsai, Chantal F Morel, Gunter Scharer, et al.
Molecular Genetics and Metabolism|August 28, 2018
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuriaRoberto Zori, Janet A Thomas, Natasha Shur, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Current Opinion in Pediatrics|September 20, 2011
The patient with infantile seizuresLea K Parsley, Janet A Thomas
Molecular Genetics and Metabolism|February 8, 2012
Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patientsPatricia Gordon, Janet A Thomas, Ruth Suter, et al.
Journal of Inherited Metabolic Disease|June 10, 2010
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis IJanet A Thomas, Michael Beck, Joe T R Clarke, et al.
Pediatric Radiology|December 20, 2012
Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiencyNicholas V Stence, Curtis R Coughlin, Laura Z Fenton, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|September 24, 2019
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain LesionsAhmed Gilani, Johan Lk Van Hove, Janet A Thomas, et al.
Molecular Genetics and Metabolism|November 27, 2012
Impact of geographic access to care on compliance and metabolic control in phenylketonuriaCynthia Freehauf, Johan L K Van Hove, Dexiang Gao, et al.
Journal of Inherited Metabolic Disease|May 9, 2018
In memoriamJohan L K Van Hove, Janet A Thomas, Peter R Baker, et al.
American Journal of Medical Genetics. Part A|July 12, 2005
Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patientLiangwu Sun, Erik A Eklund, Johan L K Van Hove, et al.
American Journal of Medical Genetics. Part A|September 14, 2007
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbanceAnne Chun-Hui Tsai, Chantal F Morel, Gunter Scharer, et al.
Molecular Genetics and Metabolism|August 28, 2018
Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuriaRoberto Zori, Janet A Thomas, Natasha Shur, et al.
Pageof 3