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A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Clinical genetics·2017

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Clinical genetics·2015

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Clinical genetics·2010

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

European journal of neurology·2006

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Journal of neurology, neurosurgery, and psychiatry·2005

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

Journal of inherited metabolic disease·2005

[Endovascular treatment of iliofemoral venous thrombosis].

Ugeskrift for laeger·2026

[Lateral epicondylitis].

Ugeskrift for laeger·2026

[Infiltrating basal cell carcinoma with perineural growth in a 15-year-old].

Ugeskrift for laeger·2026

[Group A streptococcal toxic shock syndrome with influenza A and parapneumonic effusion].

Ugeskrift for laeger·2026

[The significance of frailty in the assessment of polypharmacy and deprescribing].

Ugeskrift for laeger·2026

[Nutrition in the prevention and treatment of frailty in older adults].

Ugeskrift for laeger·2026

Hearing-aid-connected mobile apps for caregiver hearing aid management: provider practices and perspectives.

International journal of audiology·2026

A mixed-methods process evaluation of internet-delivered self-help Acceptance and Commitment Therapy for family carers of people with dementia (iACT4CARERS): engagement, mechanisms, and contextual factors.

Aging & mental health·2026

Internet healthcare in Chinese public hospitals: Towards high-quality development (1986-present).

AIMS public health·2026

From Patient to Person: An EHR-Integrated "About Me" Tool Allows Patients to Digitally Share Non-Medical Information.

Journal of general internal medicine·2026

Enhancing Discretion and Consistency in Emergency Contraception Counselling: Implementation of a Digital Support Tool in Community Pharmacies.

Pharmacy (Basel, Switzerland)·2026

Seamless Human-Computer Interaction Enabled by Wearable Biointerfaces and Intelligent Systems.

Biomimetics (Basel, Switzerland)·2026

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A 37-year-old Menkes disease patient-Residual ATP7A activity and early copper administration as key factors in beneficial treatment.

Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark.

Identification of a novel locus for a USH3 like syndrome combined with congenital cataract.

Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease.

Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.

Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.

[Endovascular treatment of iliofemoral venous thrombosis].

[Lateral epicondylitis].

[Infiltrating basal cell carcinoma with perineural growth in a 15-year-old].

[Group A streptococcal toxic shock syndrome with influenza A and parapneumonic effusion].

[The significance of frailty in the assessment of polypharmacy and deprescribing].

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Hearing-aid-connected mobile apps for caregiver hearing aid management: provider practices and perspectives.

A mixed-methods process evaluation of internet-delivered self-help Acceptance and Commitment Therapy for family carers of people with dementia (iACT4CARERS): engagement, mechanisms, and contextual factors.

Internet healthcare in Chinese public hospitals: Towards high-quality development (1986-present).

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