G. Rice

发表

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

J. Vockley, B. Burton, N. Longo, 2014, The Lancet.

Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation human pedigree

Lauren W. Wang, S. Apte, L. Reis, 2017, Human mutation.

Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria

P. Williams, G. Rice, D. Ney, 2016, Molecular genetics and metabolism reports.

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

W. O'Brien, S. Cederbaum, M. Gambello, 2008, American journal of medical genetics. Part A.

Clinical and molecular characterization of overlapping interstitial Xp21‐p22 duplications in two unrelated individuals

G. Raca, G. Rice, J. Laffin, 2010, American journal of medical genetics. Part A.

Use of Gastrostomy Tube to Prevent Maternal PKU Syndrome.

P. Williams, G. Rice, S. V. van Calcar, 2012, JIMD reports.

Nutritional management of PKU with glycomacropeptide from cheese whey

M. Etzel, G. Rice, D. Ney, 2009, Journal of Inherited Metabolic Disease.

Glycomacropeptide for nutritional management of phenylketonuria: a randomized, controlled, crossover trial12

F. Rohr, H. Levy, G. Rice, 2016, The American journal of clinical nutrition.

Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults

B. Wolf, K. Stepien, G. Rice, 2020, Molecular genetics and metabolism reports.

Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.

B. Wolf, K. Stepien, G. Rice, 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Metabolic Disorders in Pediatric Neurology

G. Rice, D. Hsu, 2010 .

Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness.

D. Gamm, B. Brooks, R. Hufnagel, 2016, American journal of human genetics.

Familial segregation of a 5q15‐q21.2 deletion associated with facial dysmorphism and speech delay

C. Zepeda-Mendoza, N. Hoppman, G. Rice, 2019, Clinical case reports.

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

TBC 1 D 24 genotype – phenotype correlation Epilepsies and other neurologic features

J. Rosenfeld, A. Pagnamenta, P. Verstreken, 2022 .

Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy

F. Scaglia, J. Goss, L. Fernandez, 2019, American journal of medical genetics. Part A.

Inborn Errors of Metabolism (Metabolic Disorders)

R. Steiner, G. Rice, 2016, Pediatrics in Review.

Phenotype of Foxp2 Haploinsufficiency in a Mother and Son Materials and Methods Array Comparative Genomic Hybridization (acgh)

L. Shriberg, G. Raca, K. Jakielski, 2011 .

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism

G. Raca, G. Rice, M. Grady, 2009, American journal of medical genetics. Part A.

Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community☆

G. Rice, S. V. van Calcar, James Deline, 2016, Molecular genetics and metabolism reports.

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome

P. Giampietro, J. Juusola, G. Rice, 2017, American journal of medical genetics. Part A.

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

W. O'Brien, S. Cederbaum, M. Gambello, 2009, Human Genetics.

Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.

Susan A. Jones, M. Durkin, J. Vockley, 2013, Molecular genetics and metabolism.

Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy

M. Bekheirnia, F. Scaglia, G. Rice, 2021, Journal of child neurology.

Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017

G. Rice, C. Seroogy, Gretchen Spicer, 2019, Public health reports.

Microdissection‐based high‐resolution genomic array analysis of two patients with cytogenetically identical interstitial deletions of chromosome 1q but distinct clinical phenotypes

T. Richmond, R. Pauli, R. Selzer, 2006, American journal of medical genetics. Part A.

Syndromes and Congenital Anomalies

J. McMurray, G. Rice, M. Braden, 1974, Multidisciplinary Management of Pediatric Voice and Swallowing Disorders.

Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population

G. Rice, C. Seroogy, M. Baker, 2016, Genetics in Medicine.

Volatile anesthesia for a pediatric patient with very long‐chain acyl‐coenzyme A dehydrogenase deficiency: A case report

A. Hess, G. Rice, B. Muldowney, 2018, Paediatric anaesthesia.

A Case of Congenitally Absent Left Internal Carotid Artery: Vascular Malformations in 22q11.2 Deletion Syndrome

L. Gentry, G. Rice, D. Mount, 2009 .

Phenotype of FOXP2 haploinsufficiency in a mother and son

L. Shriberg, G. Raca, K. Jakielski, 2012, American journal of medical genetics. Part A.