Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Gokmen-Ozel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Aysegul; MacDonald, Anita

Patient and carer perceptions of video, telephone and in-person clinics for Phenylketonuria (PKU)

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-08-200

OAAI

Phenylalanine-Free Infant Formula in Patients with Phenylketonuria: A Retrospective Study

NUTRIENTS

IF5

2024-07-101

OAAI

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?

来自欧洲2012年和2018的苯丙酮尿症患者的血苯丙氨酸水平: 这是一个变化的景观吗？

NUTRIENTS

IF5

2024-06-281

OAAI

Pinto, Alex; Ahring, Kirsten; Almeida, Manuela Ferreira; Ashmore, Catherine; Belanger-Quintana, Amaya; Burlina, Alberto; Coskun, Turgay; Daly, Anne; van Dam, Esther; Dursun, Ali; Evans, Sharon; Feillet, Francois; Gizewska, Maria; Goekmen-oezel, Hulya; Hickson, Mary; Hoekstra, Yteke; Ilgaz, Fatma; Jackson, Richard; Lesniak, Alicja; Loro, Christian; Malicka, Katarzyna; Patalan, Michal; Rocha, Julio Cesar; Sivri, Serap; Rodenburg, Iris; van Spronsen, Francjan; Straczek, Kamilla; Tokatli, Ayseguel; Macdonald, Anita

Satisfaction with home blood sampling methods and expectations for future point-of-care testing in phenylketonuria: Perspectives from patients and professionals

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-05-012

OAAI

Blood phenylalanine control in patients with phenylketonuria in Europe: is it a changing landscape?

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Phenylalanine-free infant formula in patients with phenylketonuria: a retrospective study

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Impact of fruit and vegetable protein vs. milk protein on metabolic control of children with phenylketonuria: a randomized crossover controlled trial and 6 months follow-up

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Preliminary results from the ongoing aphenity extension study: Sepiapterin reduces blood PHE with improved dietary PHE tolerance in participants with phenylketonuria

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Sacharow, Stephanie; Muntau, Ania C.; Bratkovic, Drago; Margvelashvili, Lali; Agladze, Dodo; Guilder, Laura; Schwartz, Ida Vanessa D.; Minami, Maria Avanise Yumi; Kiykim, Ertugrul; Guerra, Ixiu del Carmen Cabrales; Zori, Roberto; Campistol, Jaume; Oliveira, Anabela; Janeiro, Patricia; Rutsch, Frank; Lund, Allan; Mungan, Halise; Vijay, Suresh; MacDonald, Anita; Chakrapani, Anupam; Opladen, Thomas; Tchan, Michel; Ingalls, Kimberly; Hughes, Catalina; Zhao, Zhenming; Larkin, Alexandra; Smith, Neil; Lah, Melissa

Clinical experiences in transitioning PKU patients from second to third stage protein substitutes: a global survey

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-04-010

PRE

Management of phenylketonuria in European PKU centres remains heterogeneous

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-01-016

PRE

Anita MacDonald

个人简介

教育背景

工作经历

荣誉奖项

研究方向