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J

Janet A. Thomas

university of colorado school of medicine

H指数:20

被引数:1,587

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Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial

聚乙二醇化蒂巴丁酶替代疗法在经典型同型半胱氨酸尿症成人中的安全性与有效性：COMPOSE 1/2期随机试验

Genetics in Medicine

IF6.2

2025-05-140

PRE

Feasibility of newborn screening for pyridoxine-dependent epilepsy

MOLECULAR GENETICS AND METABOLISM

IF3.5

2025-01-011

PRE

Phenylketonuria in adults: we know plenty, but there is much more to learn

AMERICAN JOURNAL OF CLINICAL NUTRITION

IF6.9

2025-01-010

PRE

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-09-011

PRE

Update from the NIH rare disease consortium for hyperphenylalaninemia - phenylalanine families and researchers exploring evidence (PHEFREE)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Design of a Phase 3 study of AAV-mediated gene transfer of ornithine transcarbamylase (OTC) in patients with late-onset OTC deficiency

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial

NATURE METABOLISM

IF20.8

2023-09-2815

PRE

REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-07-016

OAAI

Pegvaliase for the treatment of phenylketonuria: Results of the phase 2 dose-finding studies with long-term follow-up

MOLECULAR GENETICS AND METABOLISM

IF3.5

2020-08-0122

OAAI

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

GENETICS IN MEDICINE

IF6.2

2019-08-0158

OAAI

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-11-0124

PREAI

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-07-0427

OAAI

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2018-05-01141

OAAI

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management

JOURNAL OF PEDIATRICS

IF3.5

2017-03-0154

OAAI

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Mudd病 (MAT I/III缺乏症): MAT1A纯合子和复合杂合子的数据调查

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2015-08-2034

OAAI

Chien, Yin-Hsiu; Abdenur, Jose E.; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G.; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H.; Lachmann, Robin; Levy, Harvey; Lindner, Martin; Lykopoulou, Lilia; Mayatepek, Ertan; Muntau, Ania; Okano, Yoshiyuki; Raymond, Kimiyo; Rubio-Gozalbo, Estela; Scholl-Buergi, Sabine; Schulze, Andreas; Singh, Rani; Stabler, Sally; Stuy, Mary; Thomas, Janet; Wagner, Conrad; Wilson, William G.; Wortmann, Saskia; Yamamoto, Shigenori; Pao, Maryland; Blom, Henk J.

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing

IF4.5

2015-03-0158

OAAI

Immune modulation in a patient with mucopolysaccharidosis II (MPSII) on idursulfase therapy with high titer anti-idursulfase antibodies

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-02-011

PREAI

Impact of geographic access to care on compliance and metabolic control in phenylketonuria

MOLECULAR GENETICS AND METABOLISM

IF3.5

2013-01-0117

PREAI

Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria

MOLECULAR GENETICS AND METABOLISM

IF3.5

2011-08-0127

OAAI

Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-Term Follow-Up Study: A collaborative multi-site approach to newborn screening outcomes research

山区国家遗传学区域合作中心的代谢新生儿筛查长期随访研究: 新生儿筛查结果研究的协作多站点方法

GENETICS IN MEDICINE

IF6.2

2010-12-016

OAAI