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Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in medicine, 2022-04, Vol.24 (4), p.769-783

2022

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Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Genetics in medicine, 2017-10, Vol.19 (10), p.1-10

2017

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Venetoclax and pegcrisantaspase for complex karyotype acute myeloid leukemia

Leukemia, 2021-07, Vol.35 (7), p.1907-1924

2021

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Erwinia asparaginase (crisantaspase) increases plasma levels of serine and glycine

Frontiers in oncology, 2022-12, Vol.12, p.1035537-1035537

2022

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Long-acting Erwinia chrysanthemi, Pegcrisantaspase, induces alternate amino acid biosynthetic pathways in a preclinical model of pancreatic ductal adenocarcinoma

Cancer & metabolism, 2024-06, Vol.12 (1), p.19-12, Article 19

2024

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Asparaginase Erwinia chrysanthemi effectively depletes plasma glutamine in adult patients with relapsed/refractory acute myeloid leukemia

Cancer chemotherapy and pharmacology, 2018, Vol.81 (1), p.217-222

2018

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ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

Genetics in medicine, 2018-02, Vol.20 (2), p.282-282

2018

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P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school

Genetics in Medicine Open, 2024, Vol.2, p.101747, Article 101747

2024

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Newborn Screening Long Term Follow-Up in the Medical Home

International journal of neonatal screening, 2019-07, Vol.5 (3), p.25-25

2019

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Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations

International journal of neonatal screening, 2016-12, Vol.2 (4), p.12

2016

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Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe hermansky-pudlak syndrome type 2

Pediatric research, 2002-02, Vol.51 (2), p.150-158

2002

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Next‐generation DNA sequencing of HEXA: a step in the right direction for carrier screening

Molecular genetics & genomic medicine, 2013-11, Vol.1 (4), p.260-268

2013

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AML-498 Pegcrisantaspase (PegC) Induces an Increase in Plasma Threonine in Patients With Acute Myeloid Leukemia (AML)

Clinical lymphoma, myeloma and leukemia, 2024-09, Vol.24, p.S316-S316

2024

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Comprehensive Plasma Amino Acid Analysis Following Administration of Short- and Long-Acting Erwinia Asparaginase (Crisantaspase) Demonstrated Significant Increase in Plasma Serine and Glycine Levels

Blood, 2022-11, Vol.140 (Supplement 1), p.8809-8810

2022

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Overcoming Venetoclax (Ven) Resistance through Glutamine (Gln) Depletion: Final Analysis of the Phase 1 Trial of Ven and Pegcrisantaspase (PegC) Combination in Relapsed and Refractory (R/R) Acute Myeloid Leukemia (AML)

Blood, 2023-11, Vol.142 (Supplement 1), p.60-60

2023

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Pegcrisantaspase in Combination with Venetoclax for Treatment of Relapsed or Refractory Acute Myeloid Leukemia: A Phase 1 Study

Blood, 2021-11, Vol.138 (Supplement 1), p.4433-4433

2021

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Phase 1 Dose Escalation Trial of Pegcrisantaspase in Combination with Venetoclax in Adults with Relapsed or Refractory Acute Myeloid Leukemia

Blood, 2022-11, Vol.140 (Supplement 1), p.9044-9045

2022

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Management and Quality Assurance in the Biochemical Genetics Laboratory

Current Protocols in Human Genetics, 2008-10, Vol.59 (1), p.17.7.1-17.7.12

2008

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The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.50-56

2016

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Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder

Molecular genetics and metabolism, 2011-02, Vol.102 (2), p.161-169

2011

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AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

Molecular biology of the cell, 2001-07, Vol.12 (7), p.2075-2085

2001

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Protein Phosphatase 2Cα Dephosphorylates Axin and Activates LEF-1-dependent Transcription

The Journal of biological chemistry, 2000-01, Vol.275 (4), p.2399-2403

2000

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Transient Overexpression of Murine Dishevelled Genes Results in Apoptotic Cell Death

Experimental cell research, 1999-12, Vol.253 (2), p.637-648

1999

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Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

American journal of medical genetics. Part A, 2003-07, Vol.120A (1), p.28-33

2003

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Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)

Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

2022 Association of Professors of Human and Medical Genetics (APHMG) consensus–based update of the core competencies for undergraduate medical education in genetics and genomics

Venetoclax and pegcrisantaspase for complex karyotype acute myeloid leukemia

Erwinia asparaginase (crisantaspase) increases plasma levels of serine and glycine

Long-acting Erwinia chrysanthemi, Pegcrisantaspase, induces alternate amino acid biosynthetic pathways in a preclinical model of pancreatic ductal adenocarcinoma

Asparaginase Erwinia chrysanthemi effectively depletes plasma glutamine in adult patients with relapsed/refractory acute myeloid leukemia

ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics

P836: A framework and implementation of the Association of Professors of Human and Medical Genetics updated core competencies for medical school

Newborn Screening Long Term Follow-Up in the Medical Home

Critical Newborn Screens in Double Heterozygotes of Inborn Errors of Metabolism—A Clinical Report and Recommendations

Nonsense mutations in ADTB3A cause complete deficiency of the β3A subunit of adaptor complex-3 and severe hermansky-pudlak syndrome type 2

Next‐generation DNA sequencing of HEXA: a step in the right direction for carrier screening

AML-498 Pegcrisantaspase (PegC) Induces an Increase in Plasma Threonine in Patients With Acute Myeloid Leukemia (AML)

Comprehensive Plasma Amino Acid Analysis Following Administration of Short- and Long-Acting Erwinia Asparaginase (Crisantaspase) Demonstrated Significant Increase in Plasma Serine and Glycine Levels

Overcoming Venetoclax (Ven) Resistance through Glutamine (Gln) Depletion: Final Analysis of the Phase 1 Trial of Ven and Pegcrisantaspase (PegC) Combination in Relapsed and Refractory (R/R) Acute Myeloid Leukemia (AML)

Pegcrisantaspase in Combination with Venetoclax for Treatment of Relapsed or Refractory Acute Myeloid Leukemia: A Phase 1 Study

Phase 1 Dose Escalation Trial of Pegcrisantaspase in Combination with Venetoclax in Adults with Relapsed or Refractory Acute Myeloid Leukemia

Management and Quality Assurance in the Biochemical Genetics Laboratory

The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors

Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder

AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes

Protein Phosphatase 2Cα Dephosphorylates Axin and Activates LEF-1-dependent Transcription

Transient Overexpression of Murine Dishevelled Genes Results in Apoptotic Cell Death

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children

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