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Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study

• Authors : Karoline Doser; Jens Richardt Møllegaard Jepsen; Line Kenborg

Subjects: Neurofibromatosis type 1; Adults; Neurocognitive functioning

• Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

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Distinguishing neurocognitive deficits in adult patients with NP-C from early onset Alzheimer’s dementia

• Authors : Andreas Johnen; Matthias Pawlowski; Thomas Duning

Subjects: Niemann-Pick disease type C; Alzheimer’s disease; Dementia

• Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)

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Neurocognitive functioning in adults with neurofibromatosis type 1- a nationwide population-based study.

• Authors : Doser, Karoline; Jepsen, Jens Richardt Møllegaard; Kenborg, Line

Subjects: VISUAL memory; EXECUTIVE function; MULTIVARIATE analysis

• Source: Orphanet Journal of Rare Diseases; 11/28/2024, Vol. 19 Issue 1, p1-11, 11p

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Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial

• Authors : Roberto Giugliani; Luciana Giugliani; Fabiano de Oliveira Poswar

Subjects: Mucopolysaccharidosis Type I; Iduronidase; Blood-brain barrier

• Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-11 (2018)

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Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

• Authors : Grünert Sarah C; Wendel Udo; Lindner Martin

Subjects: isovaleric acidemia; symptomatic; neurocognitive outcome

• Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 9 (2012)

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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls

• Authors : Patrick J. McKiernan; Irene M. L. W. Korver-Keularts; Rianne Jahja ...

Subjects: Male; 0301 basic medicine; Pediatrics

• Source: Orphanet journal of rare diseases, 11:87. BMCOrphanet journal of rare diseasesOrphanet Journal of Rare

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Turner Syndrome where are we?

• Authors : Khan, Najma¹ (AUTHOR); Farooqui, Anam² (AUTHOR); Ishrat, Romana¹ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 8/28/2024, Vol. 19 Issue 1, p1-10. 10p.

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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome.

• Authors : El Hachem, May¹ (AUTHOR); Diociaiuti, Andrea¹ (AUTHOR) ; Galeotti, Angela² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 1/16/2025, Vol. 20 Issue 1, p1-20. 20p.

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Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.

• Authors : Kayani, Saima^1,2 (AUTHOR) ; BordesEdgar, Veronica^1,2,3 (AUTHOR); Lowden, Andrea^1,2,4 (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 12/19/2024, Vol. 19 Issue 1, p1-12. 12p.

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Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.

• Authors : van Ginkel, Willem G.; Jahja, Rianne; Huijbregts, Stephan C. J.

Subjects: COGNITION disorder risk factors; TYROSINEMIA; METABOLIC disorder treatment

• Source: Orphanet Journal of Rare Diseases; 6/29/2016, Vol. 11, p1-9, 9p

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