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

Clinical assessment of growth patterns, weight, and dietary management in children and adults with phenylketonuria - a retrospective study

苯丙酮尿症患儿及成人生长模式、体重及饮食管理的临床评估——一项回顾性研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04136-x
Bahtiri, Lionesa; Jørgensen, Christine; Ahring, Kirsten; Rasmussen, Helle; Hermansen, Janne Meedon; Fjellbirkeland, Olivia Welle; Lund, Allan Meldgaard; Ørngreen, Mette Cathrine
发表日期：2025
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Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis

MAN2B1基因型/亚细胞定位亚组、抗药抗体检测与α-甘露糖苷酶缺乏症患者长期维曼酶α治疗结果之间的关系

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12349
Borgwardt, Line Gutte; Ceravolo, Ferdinando; Zardi, Giulia; Ballabeni, Andrea; Lund, Allan Meldgaard
细胞生物学
发表日期：2023
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Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

丹麦新生儿常规筛查中分子遗传分析的应用

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns7030050
Lund, Allan Meldgaard; Wibrand, Flemming; Skogstrand, Kristin; Bækvad-Hansen, Marie; Gregersen, Niels; Andresen, Brage Storstein; Hougaard, David M; Dunø, Morten; Olsen, Rikke Katrine Jentoft
发表日期：2021
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Cryopreservation of ovarian tissue may be considered in young girls with galactosemia

对于患有半乳糖血症的年轻女孩，可以考虑进行卵巢组织冷冻保存。

期刊:Journal of Assisted Reproduction and Genetics
影响因子:2.7
doi:10.1007/s10815-018-1209-2
Mamsen, Linn Salto; Kelsey, Thomas W; Ernst, Erik; Macklon, Kirsten Tryde; Lund, Allan Meldgaard; Andersen, Claus Yding
发表日期：2018
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The impact of consanguinity on the frequency of inborn errors of metabolism

近亲结婚对先天性代谢缺陷发生率的影响

期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2017.11.004
Afzal, Raja Majid; Lund, Allan Meldgaard; Skovby, Flemming
代谢
发表日期：2018
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Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTS

儿童和成人腕管综合征（CTS）患者中I型、II型和VI型粘多糖贮积症的患病率：对接受CTS治疗患者的回顾性和前瞻性分析

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2016_32
Nørmark, Mette Borch; Kjaer, Nanna; Lund, Allan Meldgaard
发表日期：2017
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Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation

α-甘露糖苷酶缺乏症：表型、基因型和突变型MAN2B1亚细胞定位之间的相关性

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-015-0286-x
Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle Bagterp; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Dali, Christine I; Lund, Allan Meldgaard
细胞生物学
发表日期：2015
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Is L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?

左旋肉碱补充剂对 3-甲基巴豆酰辅酶A羧化酶缺乏症有益吗？

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2014_393
Thomsen, Jákup Andreas; Lund, Allan Meldgaard; Olesen, Jess Have; Mohr, Magni; Rasmussen, Jan
发表日期：2015
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Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark

丹麦新生儿筛查发现一例无症状肉碱棕榈酰转移酶 1 (CPT1) 缺乏症患儿，其随访样本中血浆游离肉碱和酰基肉碱水平正常

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2011_35
Borch, Luise; Lund, Allan Meldgaard; Wibrand, Flemming; Christensen, Ernst; Søndergaard, Charlotte; Gahrn, Birthe; Hougaard, David Michael; Andresen, Brage Storstein; Gregersen, Niels; Olsen, Rikke Katrine Jentoft
发表日期：2012
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