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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

Clinical and translational science, 2022-08, Vol.15 (8), p.2010-2023

2022

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

European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.875-879

2008

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

Molecular genetics and metabolism reports, 2016-09, Vol.8 (C), p.48-50

2016

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

Human mutation, 2008-06, Vol.29 (6), p.E13-E26

2008

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

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.135-139

2018

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

Molecular genetics and metabolism, 2010-04, Vol.99 (4), p.379-383

2010

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Molecular Genetic Analysis: Building Understanding of the Role of Genetics in Pompe Disease Progression and Response

Clinical therapeutics, 2011-06, Vol.33 (6), p.S5-S5

Pomponio, Robert J

2011

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

Neuromuscular disorders : NMD, 2007-01, Vol.17 (1), p.16-22

2007

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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

Pediatric research, 1999-07, Vol.46 (1), p.20-27

1999

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Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children : Molecular, biochemical, and clinical analysis

Pediatric research, 1997-12, Vol.42 (6), p.840-848

1997

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Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Nature genetics, 1995-09, Vol.11 (1), p.96-98

1995

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Structure of the human biotinidase gene

Mammalian genome, 1998-04, Vol.9 (4), p.327-330

1998

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Classification of the Tumor Immune Microenvironment Using Machine-Learning-Based CD8 Immunophenotyping As a Potential Biomarker for Immunotherapy and TGF-β Blockade in Nonsmall Cell Lung Cancer

AI in Precision Oncology, 2024-04, Vol.1 (2), p.106-118

2024

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

Fertility and sterility, 1993-02, Vol.59 (2), p.387-392

1993

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

Human heredity, 2000-03, Vol.50 (2), p.102-111

2000

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Delayed-onset profound biotinidase deficiency

The Journal of pediatrics, 1998-02, Vol.132 (2), p.362-365

1998

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

American journal of human genetics, 1993-11, Vol.53 (5), p.1096-1102

1993

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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

Human genetics, 1997-04, Vol.99 (4), p.506-512

1997

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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

Human molecular genetics, 1997-05, Vol.6 (5), p.739-745

1997

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Mutation in a Putative Glycosylation Site (N489T) of Biotinidase in the Only Known Japanese Child with Biotinidase Deficiency

Molecular genetics and metabolism, 1998-06, Vol.64 (2), p.152-154

1998

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Profound biotinidase deficiency in two asymptomatic adults

American journal of medical genetics, 1997-11, Vol.73 (1), p.5-9

1997

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Deletion/Insertion Mutation That Causes Biotinidase Deficiency May Result from the Formation of a Quasipalindromic Structure

Human molecular genetics, 1996-10, Vol.5 (10), p.1657-1661

1996

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Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR

Nucleic acids research, 1991-08, Vol.19 (15), p.4203-4207

1991

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Sex chromosome composition of complete hydatidiform moles: Relationship to metastasis

American journal of obstetrics and gynecology, 1993-05, Vol.168 (5), p.1547-1551

1993

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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

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

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

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

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

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

Molecular Genetic Analysis: Building Understanding of the Role of Genetics in Pompe Disease Progression and Response

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

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

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children : Molecular, biochemical, and clinical analysis

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

Structure of the human biotinidase gene

Classification of the Tumor Immune Microenvironment Using Machine-Learning-Based CD8 Immunophenotyping As a Potential Biomarker for Immunotherapy and TGF-β Blockade in Nonsmall Cell Lung Cancer

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

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

Delayed-onset profound biotinidase deficiency

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

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

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

Mutation in a Putative Glycosylation Site (N489T) of Biotinidase in the Only Known Japanese Child with Biotinidase Deficiency

Profound biotinidase deficiency in two asymptomatic adults

Deletion/Insertion Mutation That Causes Biotinidase Deficiency May Result from the Formation of a Quasipalindromic Structure

Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR

Sex chromosome composition of complete hydatidiform moles: Relationship to metastasis

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