D. Peck

发表

The effects of early-treated phenylketonuria on volumetric measures of the cerebellum

S. Christ, Kristina Aldridge, D. White, 2020, Molecular genetics and metabolism reports.

Disruption of prefrontal function and connectivity in individuals with phenylketonuria.

Amanda J. Moffitt, S. Christ, D. Peck, 2010, Molecular genetics and metabolism.

Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio‐facio‐cutaneous syndrome from Costello syndrome

K. Jones, K. Gripp, A. Lin, 2007, American journal of medical genetics. Part A.

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

Detecting 3D Corpus Callosum abnormalities in phenylketonuria

Qing He, Ye Duan, Kevin Karsch, 2009, Int. J. Comput. Biol. Drug Des..

Surgical septal myectomy for relief of dynamic obstruction in Anderson-Fabry Disease.

H. Schaff, W. Miranda, J. Geske, 2019, International journal of cardiology.

Fabry disease in infancy and early childhood: a systematic literature review

R. Hopkin, W. Wilcox, Andrea M. Atherton, 2014, Genetics in Medicine.

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

C. Kaye, D. Grange, B. Therrell, 2011, Journal of Community Genetics.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.

SYT1-associated neurodevelopmental disorder: a case series

Ingo Borggraefe, Giuseppe Marangi, Yunyun Jiang, 2018, Brain : a journal of neurology.

Cost Efficacy of &agr;‐Galactosidase A Enzyme Screening for Fabry Disease

S. Ommen, M. Ackerman, D. Matern, 2019, Mayo Clinic proceedings.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency

K. Gibson, D. Gavrilov, G. Hoganson, 2007, Journal of Inherited Metabolic Disease.

Early-Onset LBSL: How Severe Does It Get?

I. Temple, G. Scheper, G. Uziel, 2012, Neuropediatrics.

SYT1-associated neurodevelopmental disorder: a case series

R. Gibbs, S. Boyd, I. Borggraefe, 2018, Brain : a journal of neurology.

Precision newborn screening for lysosomal disorders

P. Rinaldo, D. Matern, S. Tortorelli, 2018, Genetics in Medicine.

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.

R. Giugliani, P. Rinaldo, D. Matern, 2019, Molecular genetics and metabolism.

Morphometric analysis of gray matter integrity in individuals with early-treated phenylketonuria.

Mason H. Price, Amanda J. Moffitt, Kimberly E. Bodner, 2016, Molecular genetics and metabolism.

Tract-based evaluation of white matter damage in individuals with early-treated phenylketonuria

S. Christ, D. White, Huiling Peng, 2014, Journal of Inherited Metabolic Disease.

Response to letter to the editor: Why does Leigh syndrome responds to immunotherapy?

R. Govindarajan, D. Peck, Miguel Chuquilin, 2016, Molecular genetics and metabolism reports.

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation

R. Govindarajan, Esperanza Font-Montgomery, D. Peck, 2016, Molecular genetics and metabolism reports.

Shape analysis of corpus callosum in phenylketonuria using a new 3D correspondence algorithm

Ye Duan, Kevin Karsch, Qing He, 2010, Medical Imaging.

The effects of tetrahydrobiopterin (BH4) treatment on brain function in individuals with phenylketonuria☆

Amanda J. Moffitt, S. Christ, D. White, 2013, NeuroImage: Clinical.

A volumetric study of basal ganglia structures in individuals with early-treated phenylketonuria.

Amanda J. Moffitt, Kimberly E. Bodner, S. Christ, 2012, Molecular genetics and metabolism.

Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I

Ayesha Ahmad, P. Rinaldo, D. Matern, 2020, International journal of neonatal screening.

Biochemical and immunological studies on a family with prolidase deficiency

A. Green, D. Peck, A. Ward, 1983, Journal of Inherited Metabolic Disease.

DNA carrier testing and newborn screening for maple syrup urine disease in Old Order Mennonite communities.

C. Phillips, D. Peck, S. Carleton, 2010, Genetic testing and molecular biomarkers.