日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype

两名患有未经治疗的苯丙酮尿症的成年姐妹:临床表型显著不同

Demirbas, Didem; Waisbren, Susan E; Bodamer, Olaf; Hung, Christina Y; Rajabi, Farrah; Berry, Gerard; Levy, Harvey L

A Review of "My Life in Science: The Story of Biotinidase Deficiency" by Dr. Barry Wolf

对巴里·沃尔夫博士所著《我的科学人生:生物素酶缺乏症的故事》一书的评论

Levy, Harvey L

Past as Prologue: Predicting Potential Psychosocial-Ethical Burdens of Positive Newborn Screens as Conditions Propagate

以史为鉴:预测新生儿筛查阳性结果可能带来的社会心理伦理负担及其蔓延趋势

Bush, Lynn W; Levy, Harvey L

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

经典型苯丙酮尿症表现为母体苯丙酮尿症综合征,发生于智力正常的女性的后代中。

Alghamdi, Malak Ali; O'Donnell-Luria, Anne; Almontashiri, Naif A; AlAali, Wajeih Y; Ali, Hebatallah H; Levy, Harvey L

The hypergonadotropic hypogonadism conundrum of classic galactosemia

经典型半乳糖血症的高促性腺激素性性腺功能减退症之谜

Derks, Britt; Rivera-Cruz, Greysha; Hagen-Lillevik, Synneva; Vos, E Naomi; Demirbas, Didem; Lai, Kent; Treacy, Eileen P; Levy, Harvey L; Wilkins-Haug, Louise E; Rubio-Gozalbo, M Estela; Berry, Gerard T

Ethical and Psychosocial Implications of Genomic Newborn Screening

新生儿基因组筛查的伦理和社会心理影响

Levy, Harvey L

Robert Guthrie and the Trials and Tribulations of Newborn Screening

罗伯特·格思里与新生儿筛查的种种考验和磨难

Levy, Harvey L

Early Development of Newborn Screening for HCU and Current Challenges

新生儿高危人群筛查的早期发展及当前挑战

Levy, Harvey L

Pancreatic involvement in patients with inborn errors of metabolism

先天性代谢异常患者的胰腺受累情况

Hwang, Woo Jin; Lim, Han Hyuk; Kim, Yoo-Mi; Chang, Mea Young; Kil, Hong Ryang; Kim, Jae Young; Song, Wung Joo; Levy, Harvey L; Kim, Sook-Za

The Genetic Landscape and Epidemiology of Phenylketonuria

苯丙酮尿症的遗传图谱和流行病学

Hillert, Alicia; Anikster, Yair; Belanger-Quintana, Amaya; Burlina, Alberto; Burton, Barbara K; Carducci, Carla; Chiesa, Ana E; Christodoulou, John; Đorđević, Maja; Desviat, Lourdes R; Eliyahu, Aviva; Evers, Roeland A F; Fajkusova, Lena; Feillet, François; Bonfim-Freitas, Pedro E; Giżewska, Maria; Gundorova, Polina; Karall, Daniela; Kneller, Katya; Kutsev, Sergey I; Leuzzi, Vincenzo; Levy, Harvey L; Lichter-Konecki, Uta; Muntau, Ania C; Namour, Fares; Oltarzewski, Mariusz; Paras, Andrea; Perez, Belen; Polak, Emil; Polyakov, Alexander V; Porta, Francesco; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Spécola, Norma; Stojiljković, Maja; Shen, Nan; Santana-da Silva, Luiz C; Skouma, Anastasia; van Spronsen, Francjan; Stoppioni, Vera; Thöny, Beat; Trefz, Friedrich K; Vockley, Jerry; Yu, Youngguo; Zschocke, Johannes; Hoffmann, Georg F; Garbade, Sven F; Blau, Nenad