R. Pomponio

发表

Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States

G. Buck, B. Wolf, K. L. Swango, 1998 .

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

G. Buck, B. Wolf, K. L. Swango, 1997, Biochemical and molecular medicine.

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.

H. Mandel, G. Buck, P. Melone, 1997, Human molecular genetics.

The influence of a polymorphism in the gene encoding angiotensin converting enzyme (ACE) on treatment outcomes in late-onset Pompe patients receiving alglucosidase alfa

Xiwen Ma, R. Pomponio, A. McVie-Wylie, 2016, Molecular genetics and metabolism reports.

Oppositely imprinted genes H19 and insulin-like growth factor 2 are coexpressed in human androgenetic trophoblast.

C. Stewart, G. Mutter, R. Pomponio, 1993, American journal of human genetics.

Safety, pharmacokinetics and target engagement of novel RIPK1 inhibitor SAR443060 (DNL747) for neurodegenerative disorders: Randomized, placebo‐controlled, double‐blind phase I/Ib studies in healthy subjects and patients

K. Scearce-Levie, M. Alonso-Alonso, P. D. De Deyn, 2022, Clinical and translational science.

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

D. Halley, A. Reuser, M. Kroos, 2008, Human mutation.

Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

T. Suormala, G. Buck, B. Wolf, 1997, Human Genetics.

Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

W. Chung, Xiwen Ma, Z. Gan-Or, 2017, Molecular genetics and metabolism.

Delayed-onset profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, V. Ramaekers, 1998, The Journal of pediatrics.

Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

M. Ausems, M. Kroos, A. T. van der Ploeg, 2007, Neurology.

Testis-specific expression of the human MYCL2 gene.

C. Morton, G. Mutter, N. G. Robertson, 1991, Nucleic acids research.

Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.

R. Pomponio, L. Barrera, M. Cabrera-Salazar, 2005, Molecular genetics and metabolism.

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.

Y. Chien, W. Hwu, T. Scholl, 2010, Molecular genetics and metabolism.

Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.

B. Wolf, J. Hymes, A. Yamaguchi, 1998, Molecular genetics and metabolism.

Mutations in the Human Biotinidase Gene That Cause Profound Biotinidase Deficiency in Symptomatic Children: Molecular, Biochemical, and Clinical Analysis

G. Buck, B. Wolf, J. Hymes, 1997, Pediatric Research.

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

S. Marie, P. Gutierrez, R. Mattaliano, 2009, Journal of Neurology.

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

S. Marie, W. Robberecht, B. Engelen, 2012, Human mutation.

Structure of the human biotinidase gene

G. Buck, Heather Knight, B. Wolf, 1998, Mammalian Genome.

Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations

A. Pandya, S. Blanton, T. Coşkun, 1999, Human Heredity.

Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure.

G. Buck, L. Povirk, B. Wolf, 1996, Human molecular genetics.

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Gregory A. Buck, Barry Wolf, G. Buck, 1995, Nature Genetics.

Novel mutations cause biotinidase deficiency in Turkish children

T. Coşkun, B. Wolf, R. Pomponio, 2000, Journal of Inherited Metabolic Disease.

Mutations Causing Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States Occur at Different Frequencies than in Symptomatic Children

B. Wolf, J. Hymes, K. Norrgard, 1999, Pediatric Research.

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

B. Wolf, P. Ozand, R. Pomponio, 2000, Journal of Inherited Metabolic Disease.

Profound biotinidase deficiency in two asymptomatic adults.

M. Blitzer, D. Mock, B. Wolf, 1997, American journal of medical genetics.

Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

G. Buck, B. Wolf, K. L. Swango, 1998, Human mutation.

Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses

A. Pandya, G. Buck, P. Melone, 1998, Prenatal diagnosis.

Sex chromosome composition of complete hydatidiform moles: relationship to metastasis.

R. Berkowitz, G. Mutter, D. Genest, 1993, American journal of obstetrics and gynecology.

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.

K. Klinger, S. Marie, S. Madden, 2012, Molecular genetics and metabolism.

A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history

L. Lipton, I. Tomlinson, V. Weinberg, 2004, Familial Cancer.

Testis-specific expression ofthehumanMYCL2gene

R. Pomponio, C. Mortonl, 1991 .

The sex ratio of normal and manipulated human sperm quantitated by the polymerase chain reaction.

G. Mutter, R. Pomponio, S. M. Lobel, 1993, Fertility and sterility.

Pompe disease (glycogen storage disease type II) in Argentineans: Clinical manifestations and identification of 9 novel mutations

N. Chamoles, R. Pomponio, M. Blanco, 2007, Neuromuscular Disorders.

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

P. Kishnani, D. Corzo, R. Pomponio, 2007, Molecular genetics and metabolism.

Two clinical forms of glycogen‐storage disease type II in two generations of the same family

N. Chamoles, R. Pomponio, H. Amartino, 2005, Clinical genetics.

An integrative approach of digital image analysis and transcriptome profiling to explore potential predictive biomarkers for TGFβ blockade therapy

Tun Tun Lin, R. Olfati-Saber, Jack Pollard, 2022, Acta pharmaceutica Sinica. B.

Dried blood spots: the future

J. Henion, Fumin Li, Regina V. Oliveira, 2013 .

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

R. Wevers, D. Halley, M. Kroos, 2008, European Journal of Human Genetics.

Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR.

G. Mutter, R. Pomponio, 1991, Nucleic acids research.

Abstract 5550: Translational biomarkers for SAR439459, an anti-TGFβ antibody for cancer immunotherapy

Tun Tun Lin, P. Mankoo, D. Wiederschain, 2018, Clinical Research (Excluding Clinical Trials).