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Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?

The Journal of pediatrics, 2020-01, Vol.216, p.9-11.e1

2020

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Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

JIMD reports, 2023-09, Vol.64 (5), p.312-316

2023

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PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WITH BENIGN HYPERPHENYLALANINEMIA

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.283-283

2022

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O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)

Genetics in Medicine Open, 2023, Vol.1 (1), p.100007, Article 100007

2023

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P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial

Genetics in Medicine Open, 2024, Vol.2, p.100889, Article 100889

2024

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Tools and Equipment for Managing Special Care Patients Anywhere

The Dental clinics of North America, 2016-07, Vol.60 (3), p.567-591

2016

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Phenotyping and treatment of phenylketonuria – Authors' reply

The Lancet (British edition), 2011, Vol.377 (9764), p.466-466

2011

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Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

Molecular genetics and metabolism, 2007-07, Vol.91 (3), p.218-227

2007

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Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

JIMD reports, 2019-03, Vol.46 (1), p.63-69

2019

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eP008: Cystathionine beta synthase deficiency patients are being missed by newborn screening

Genetics in medicine, 2022-03, Vol.24 (3), p.S5-S5

2022

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Pegtibatinase, an investigational enzyme replacement therapy, for the treatment of classical homocystinuria (HCU): Design of the harmony Phase 3 study

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108322, Article 108322

2024

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Barbara Maria Cabalska, Professor Emeritus at the Institute of Mother and Child, Warsaw, Poland (born: Warsaw, Poland, October 19, 1927; MD Warsaw Medical Academy; deceased: Warsaw, Poland, February 5, 2020)

Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.1083-1084

2021

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Treating Patients with Anxiety or Special Needs: There's Always a Way

Texas dental journal, 2015-02, Vol.132 (2), p.124

Levy, Harvey

2015

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Latest results from the COMPOSE® Phase 1/2 trial for the treatment of classical homocystinuria (HCU) using pegtibatinase, a novel investigational enzyme replacement therapy

Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108314, Article 108314

2024

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Lessons from the past--looking to the future. Newborn screening

Pediatric annals, 2003-08, Vol.32 (8), p.505

Levy, Harvey L

2003

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Commentary

Clinical chemistry (Baltimore, Md.), 2010-11, Vol.56 (11), p.1669-1669

2010

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PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.283-284

2022

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Richard Koch — An appreciation (1921–2011)

Molecular genetics and metabolism, 2012-01, Vol.105 (1), p.1-2

2012

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50 Years Ago in The Journal of Pediatrics

The Journal of pediatrics, 2011-12, Vol.159 (6), p.932

2011

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50 Years Ago in The Journalof Pediatrics

The Journal of pediatrics, 2011-12, Vol.159 (6), p.932-932

2011

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Expansion and Implications of Newborn Screening

Current genetic medicine reports, 2015-09, Vol.3 (3), p.110-117

2015

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Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

The Lancet (British edition), 2002-02, Vol.359 (9306), p.628-628

2002

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Novel mutations in the GALK1 gene in patients with galactokinase deficiency

Human mutation, 2001, Vol.17 (1), p.77-78

2001

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Newborn screening: toward a uniform screening panel and system--executive summary

Pediatrics (Evanston), 2006-05, Vol.117 (5 Pt 2), p.S296

American College of Medical Genetics Newborn Screening Expert Group

2006

Volltextzugriff (PDF)

Tests in Education: A Book of Critical Reviews

2014

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Can Newborn Screening for Vitamin B12 Deficiency be Incorporated into All Newborn Screening Programs?

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

PROBLEMS IN PRENATAL COUNSELING FOR PREGNANCIES AFFECTED WITH BENIGN HYPERPHENYLALANINEMIA

O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)

P012: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial

Tools and Equipment for Managing Special Care Patients Anywhere

Phenotyping and treatment of phenylketonuria – Authors' reply

Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

eP008: Cystathionine beta synthase deficiency patients are being missed by newborn screening

Pegtibatinase, an investigational enzyme replacement therapy, for the treatment of classical homocystinuria (HCU): Design of the harmony Phase 3 study

Barbara Maria Cabalska, Professor Emeritus at the Institute of Mother and Child, Warsaw, Poland (born: Warsaw, Poland, October 19, 1927; MD Warsaw Medical Academy; deceased: Warsaw, Poland, February 5, 2020)

Treating Patients with Anxiety or Special Needs: There's Always a Way

Latest results from the COMPOSE® Phase 1/2 trial for the treatment of classical homocystinuria (HCU) using pegtibatinase, a novel investigational enzyme replacement therapy

Lessons from the past--looking to the future. Newborn screening

Commentary

PEGTIBATINASE, AN INVESTIGATIONAL ENZYME REPLACEMENT THERAPY FOR THE TREATMENT OF CLASSICAL HOMOCYSTINURIA: INITIAL RESULTS FROM THE PHASE 1/2 COMPOSE STUDY

Richard Koch — An appreciation (1921–2011)

50 Years Ago in The Journal of Pediatrics

50 Years Ago in The Journalof Pediatrics

Expansion and Implications of Newborn Screening

Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

Novel mutations in the GALK1 gene in patients with galactokinase deficiency

Newborn screening: toward a uniform screening panel and system--executive summary

Tests in Education: A Book of Critical Reviews

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