Lund AM - Search Results

1

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.

Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. Guffon N, et al. Among authors: lund am. Mol Genet Metab. 2024 Aug;142(4):108519. doi: 10.1016/j.ymgme.2024.108519. Epub 2024 Jun 23. Mol Genet Metab. 2024. PMID: 39024860 Free article.

2

Hematopoietic stem cell transplantation or enzyme replacement therapy in Gaucher disease type 3.

Høj A, Ørngreen MC, Naume MM, Lund AM. Høj A, et al. Among authors: lund am. Mol Genet Metab. 2024 Aug;142(4):108515. doi: 10.1016/j.ymgme.2024.108515. Epub 2024 Jun 13. Mol Genet Metab. 2024. PMID: 38909587

3

X-linked creatine transporter (SLC6A8) deficiency in females: Difficult to recognize, but a potentially treatable disease.

Mejdahl Nielsen M, Petersen ET, Fenger CD, Ørngreen MC, Siebner HR, Boer VO, Považan M, Lund A, Grønborg SW, Hammer TB. Mejdahl Nielsen M, et al. Mol Genet Metab. 2023 Nov;140(3):107694. doi: 10.1016/j.ymgme.2023.107694. Epub 2023 Aug 30. Mol Genet Metab. 2023. PMID: 37708665 Free article. Review.

4

Newborn screening for adrenoleukodystrophy: International experiences and challenges.

Videbæk C, Melgaard L, Lund AM, Grønborg SW. Videbæk C, et al. Among authors: lund am. Mol Genet Metab. 2023 Dec;140(4):107734. doi: 10.1016/j.ymgme.2023.107734. Epub 2023 Nov 10. Mol Genet Metab. 2023. PMID: 37979237 Free article. Review.

5

Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.

Lund AM, Eiberg H, Rosenberg T, Warburg M. Lund AM, et al. Clin Genet. 1992 Feb;41(2):65-9. doi: 10.1111/j.1399-0004.1992.tb03634.x. Clin Genet. 1992. PMID: 1544213

6

Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36.

Eiberg H, Lund AM, Warburg M, Rosenberg T. Eiberg H, et al. Among authors: lund am. Hum Genet. 1995 Jul;96(1):33-8. doi: 10.1007/BF00214183. Hum Genet. 1995. PMID: 7607651

7

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family.

Eiberg H, Mikkelsen AF, Bak M, Tommerup N, Lund AM, Wenzel A, Sabarinathan R, Gorodkin J, Bang-Berthelsen CH, Hansen L. Eiberg H, et al. Among authors: lund am. Mol Vis. 2019 Jan 20;25:1-11. eCollection 2019. Mol Vis. 2019. PMID: 30820140 Free PMC article.

8

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.

Lund AM, Berland S, Tangeraas T, Christensen M, Confer N, Squires L, Brannsether B. Lund AM, et al. Pediatrics. 2024 Jun 1;153(6):e2023062548. doi: 10.1542/peds.2023-062548. Pediatrics. 2024. PMID: 38808412

9

Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia.

Ben-Omran T, Masana L, Kolovou G, Ariceta G, Nóvoa FJ, Lund AM, Bogsrud MP, Araujo M, Hussein O, Ibarretxe D, Sanchez-Hernández RM, Santos RD. Ben-Omran T, et al. Among authors: lund am. Adv Ther. 2024 Apr;41(4):1765-1769. doi: 10.1007/s12325-023-02739-z. Epub 2024 Feb 20. Adv Ther. 2024. PMID: 38376744 Free PMC article. No abstract available.

10

Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.

Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. Among authors: lund am. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550

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