Late-Onset Molybdenum Cofactor Deficiency Type A - Ansatte ved Biomedicinsk Institut

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

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Standard

Late-Onset Molybdenum Cofactor Deficiency Type A : A Treatable Cause of Developmental Delay. / Lund, Allan M.; Berland, Siren; Tangeraas, Trine; Christensen, Mette; Confer, Nils; Squires, Liza; Brannsether, Bente.

I: Pediatrics, Bind 153, Nr. 6, e2023062548, 2024.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Lund, AM, Berland, S, Tangeraas, T, Christensen, M, Confer, N, Squires, L & Brannsether, B 2024, 'Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay', Pediatrics, bind 153, nr. 6, e2023062548. https://doi.org/10.1542/peds.2023-062548

APA

Lund, A. M., Berland, S., Tangeraas, T., Christensen, M., Confer, N., Squires, L., & Brannsether, B. (2024). Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay. Pediatrics, 153(6), [e2023062548]. https://doi.org/10.1542/peds.2023-062548

Vancouver

Lund AM, Berland S, Tangeraas T, Christensen M, Confer N, Squires L o.a. Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay. Pediatrics. 2024;153(6). e2023062548. https://doi.org/10.1542/peds.2023-062548

Author

Lund, Allan M. ; Berland, Siren ; Tangeraas, Trine ; Christensen, Mette ; Confer, Nils ; Squires, Liza ; Brannsether, Bente. / Late-Onset Molybdenum Cofactor Deficiency Type A : A Treatable Cause of Developmental Delay. I: Pediatrics. 2024 ; Bind 153, Nr. 6.

Bibtex

@article{863c24bb3d2b4e7cbeb2d303d70bbc73,

title = "Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay",

abstract = "Molybdenum cofactor deficiency classically presents in neonates with intractable seizures; however, milder cases generally present before age 2 years with developmental delays and may go undiagnosed. Early diagnosis, and safe, US Food and Drug Administration-approved substrate replacement are critical to preserve neurologic function. This article discusses 2 children who presented with late-onset molybdenum cofactor deficiency type A.",

author = "Lund, {Allan M.} and Siren Berland and Trine Tangeraas and Mette Christensen and Nils Confer and Liza Squires and Bente Brannsether",

year = "2024",

doi = "10.1542/peds.2023-062548",

language = "English",

volume = "153",

journal = "Pediatrics",

issn = "0031-4005",

publisher = "American Academy of Pediatrics",

number = "6",

}

RIS

TY - JOUR

T1 - Late-Onset Molybdenum Cofactor Deficiency Type A

T2 - A Treatable Cause of Developmental Delay

AU - Lund, Allan M.

AU - Berland, Siren

AU - Tangeraas, Trine

AU - Christensen, Mette

AU - Confer, Nils

AU - Squires, Liza

AU - Brannsether, Bente

PY - 2024

Y1 - 2024

N2 - Molybdenum cofactor deficiency classically presents in neonates with intractable seizures; however, milder cases generally present before age 2 years with developmental delays and may go undiagnosed. Early diagnosis, and safe, US Food and Drug Administration-approved substrate replacement are critical to preserve neurologic function. This article discusses 2 children who presented with late-onset molybdenum cofactor deficiency type A.

AB - Molybdenum cofactor deficiency classically presents in neonates with intractable seizures; however, milder cases generally present before age 2 years with developmental delays and may go undiagnosed. Early diagnosis, and safe, US Food and Drug Administration-approved substrate replacement are critical to preserve neurologic function. This article discusses 2 children who presented with late-onset molybdenum cofactor deficiency type A.

U2 - 10.1542/peds.2023-062548

DO - 10.1542/peds.2023-062548

M3 - Journal article

C2 - 38808412

AN - SCOPUS:85194820458

VL - 153

JO - Pediatrics

JF - Pediatrics

SN - 0031-4005

IS - 6

M1 - e2023062548

ER -

ID: 394433705