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Publication : orphanet journal of rare diseases

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Academic Journal

Psychological functioning in children suspected for mitochondrial disease: the need for care.

Authors : van de Loo, Kim F. E.¹ (AUTHOR) ; Custers, José A. E.² (AUTHOR); Koene, Saskia^3,4 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/24/2020, Vol. 15 Issue 1, p1-9. 9p.

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Academic Journal

The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome.

Authors : Dykens, Elisabeth M.¹ (AUTHOR) ; Roof, Elizabeth¹ (AUTHOR); Hunt-Hawkins, Hailee¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 2/23/2024, Vol. 19 Issue 1, p1-13. 13p.

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Academic Journal

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.

Authors : Ng, Rowena^1,2 (AUTHOR) ; Kalinousky, Allison J³ (AUTHOR); Harris, Jacqueline^1,3,4,5 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 5/13/2024, Vol. 19 Issue 1, p1-11. 11p.

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Academic Journal

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Authors : Fetta, Anna^1,2 (AUTHOR); Toni, Francesco³ (AUTHOR); Pettenuzzo, Ilaria^1,2 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/8/2024, Vol. 19 Issue 1, p1-15. 15p.

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Academic Journal

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

Authors : van Vliet, Kimber¹ (AUTHOR); van Ginkel, Willem G.¹ (AUTHOR); Jahja, Rianne¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 12/4/2019, Vol. 14 Issue 1, pN.PAG-N.PAG. 1p.

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Academic Journal

Cognitive functioning and mental health in children with a primary mitochondrial disease.

Authors : van de Loo, Kim F. E.^1,2 (AUTHOR); Custers, José A. E.¹ (AUTHOR) ; de Boer, Lonneke³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 10/1/2022, Vol. 17 Issue 1, p1-13. 13p.

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Academic Journal

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.

Authors : Tiemens, Dagmar K.^1,2 (AUTHOR); Kleimeier, Lotte¹ (AUTHOR); Leenders, Erika³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 7/21/2023, Vol. 18 Issue 1, p1-13. 13p.

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Academic Journal

Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France.

Authors : Maler, Victor^1,2 (AUTHOR); Goetz, Violette¹ (AUTHOR); Tardieu, Marine¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 6/8/2023, Vol. 18 Issue 1, p1-7. 7p.

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Academic Journal

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Authors : Hüffmeier, Ulrike¹ (AUTHOR) ; Kraus, Cornelia¹ (AUTHOR); Reuter, Miriam S.¹ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 3/18/2021, Vol. 16 Issue 1, p1-9. 9p.

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Academic Journal

The adult phenotype of Schaaf-Yang syndrome.

Authors : Marbach, Felix¹ (AUTHOR); Elgizouli, Magdeldin^2,3 (AUTHOR); Rech, Megan⁴ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 10/19/2020, Vol. 15 Issue 1, p1-11. 11p.

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فلترة النتائج

Psychological functioning in children suspected for mitochondrial disease: the need for care.

The Prader-Willi syndrome Profile: validation of a new measure of behavioral and emotional problems in Prader-Willi syndrome.

Neuropsychological profile associated with KAT6A syndrome: Emergent genotype-phenotype trends.

Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.

Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.

Cognitive functioning and mental health in children with a primary mitochondrial disease.

The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder.

Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France.

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

The adult phenotype of Schaaf-Yang syndrome.

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