Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross‐sectional survey

Authors: Sara Olofsson, Sofia Löfvendahl, Julia Widén, Lena Jacobson, Peter Lindgren, Karolina M. Stepien, Jean‐Baptiste Arnoux, Maria Luz Couce Pico, Elisa Leão Teles, Mattias Rudebeck

Source: JIMD Reports, Vol 65, Iss 6, Pp 450-460 (2024)

Subject Terms: ARG1‐D, arginase 1 deficiency, caregiver, disease burden, patient perspective, urea cycle disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/75e89c23a1d74a5e915f5192fa93b4ec

Improving the clinical accuracy and flexibility of the Alkaptonuria severity score index

Authors: Harriet E. O. Cant, Iro Chatzidaki, Birgitta Olsson, Mattias Rudebeck, Jean‐Baptiste Arnoux, Richard Imrich, Lucy A. Eddowes, Lakshminarayan R. Ranganath

Source: JIMD Reports, Vol 63, Iss 4, Pp 361-370 (2022)

Subject Terms: Alkaptonuria, composite measure, disease progression, nitisinone, resource‐limited, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/bd9d7265c2564712ae3e74349d93a2bd

Effects of a protein‐restricted diet on body weight and serum tyrosine concentrations in patients with alkaptonuria

Authors: Birgitta Olsson, Lakshminarayan Ranganath, Jean‐Baptiste Arnoux, Richard Imrich, Anna Milan, Mattias Rudebeck

Source: JIMD Reports, Vol 63, Iss 1, Pp 41-49 (2022)

Subject Terms: Alkaptonuria, body weight, diet, keratopathy, protein, tyrosine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/be3b952aa5464c34a1393c236fa2f965

Clinical development innovation in rare diseases: lessons learned and best practices from the DevelopAKUre consortium

Authors: Mattias Rudebeck, Ciarán Scott, Nicholas P. Rhodes, Christa van Kan, Birgitta Olsson, Mohammed Al-sbou, Anthony K. Hall, Nicolas Sireau, Lakshminarayan R. Ranganath

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

Subject Terms: Rare diseases, Drug development, Alkaptonuria, AKU, DevelopAKUre, Best practice, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/641b41904e8242b6a36d17770ae9ab8c

Radiological evolution of spinal disease in alkaptonuria and the effect of nitisinone

Authors: Lakshminarayan R Ranganath, Milad Khedr, Jean-Baptiste Arnoux, Jozef Rovensky, Richard Jackson, Vanda Mlynarikova, Helen Bygott, Birgitta Olsson, Mattias Rudebeck, Andrea Zatkova, Richard Imrich, Olga Lukacova, Jana Sedlakova, Mária Úlehlová, Matthew Gornall, James Gallagher, Roman Stančík, Eva Vrtíková, Elizabeth Záňová, Emily Luangrath

Source: RMD Open, Vol 8, Iss 2 (2022)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://rmdopen.bmj.com/content/8/2/e002422.full; https://doaj.org/toc/2056-5933

Access URL: https://doaj.org/article/7ad17879aed8418c859a209f23af4c38

Inter‐laboratory analytical improvement of succinylacetone and nitisinone quantification from dried blood spot samples

Authors: Hilde Laeremans, Charles Turner, Tommy Andersson, Jose Angel Cocho deJuan, Adam Gerrard, M. Rebecca Heiner‐Fokkema, Diran Herebian, Nils Janzen, Giancarlo laMarca, Mattias Rudebeck

Source: JIMD Reports, Vol 53, Iss 1, Pp 90-102 (2020)

Subject Terms: dried blood spot, hereditary tyrosinemia type 1, nitisinone, succinylacetone, tandem mass spectrometry, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/6009c65edbbf49f4820c0f103370be32

A patient survey on the impact of alkaptonuria symptoms as perceived by the patients and their experiences of receiving diagnosis and care

Authors: Mattias Rudebeck, Ciarán Scott, Nicolas Sireau, Lakshminarayan Ranganath

Source: JIMD Reports, Vol 53, Iss 1, Pp 71-79 (2020)

Subject Terms: Alkaptonuria, impact of symptoms, orphan disease, patient experience, quality of life, rare disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2192-8312

Access URL: https://doaj.org/article/c4b98782534a4c4e8ec81c5afbdbd9df

Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria

Authors: Lakshminarayan R. Ranganath, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher, Anna M. Milan

Source: Metabolites, Vol 12, Iss 10, p 920 (2022)

Subject Terms: alkaptonuria, pigment, biliary excretion, ochronosis, nitisinone, homogentisic acid, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-1989/12/10/920; https://doaj.org/toc/2218-1989

Access URL: https://doaj.org/article/947ce8c34d8640b08aeeb64dfffe4de9

Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment

Authors: Lakshminarayan R. Ranganath, Anna M. Milan, Andrew T. Hughes, Andrew S. Davison, Milad Khedr, Richard Imrich, Mattias Rudebeck, Birgitta Olsson, Brendan P. Norman, George Bou-Gharios, James A. Gallagher

Source: Metabolites, Vol 12, Iss 8, p 772 (2022)

Subject Terms: sex, keratopathy, alkaptonuria, homogentisic acid, hydroxyphenylpyruvate, hydroxyphenyllactate, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-1989/12/8/772; https://doaj.org/toc/2218-1989

Access URL: https://doaj.org/article/1944aa1942db460ba4860e964f9668c1