Neurological deterioration in adult phenylketonuria

PKU patients on a relaxed diet may be at risk for micronutrient deficiencies.

European journal of clinical nutrition·2013

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.

Journal of inherited metabolic disease·2002

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

Neurology·2002

Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.

Journal of neurology·2000

[X-chromosomal recessive spinobulbar muscular atrophy (Kennedy type). Description of a family, clinical aspects, molecular genetics, differential diagnosis and therapy].

Der Nervenarzt·1998

Postexcitatory inhibition after transcranial magnetic stimulation of the motor cortex in patients with drug-induced parkinsonism and in healthy individuals.

International clinical psychopharmacology·1998

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Journal of inherited metabolic disease·2026

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Journal of inherited metabolic disease·2026

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Journal of inherited metabolic disease·2026

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal of inherited metabolic disease·2026

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

Journal of inherited metabolic disease·2026

From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

Journal of inherited metabolic disease·2026

Role of arbutin and acetoside against Parkinson's disease.

Indian journal of pharmacology·2026

Deep Medullary Vein Disruption and Glymphatic Dysfunction Are Associated With Cognitive Impairment and Imaging Burden in Cerebral Small-Vessel Disease.

Journal of clinical neurology (Seoul, Korea)·2026

Treatment of Functional Neurological Disorders.

Journal of clinical neurology (Seoul, Korea)·2026

Disruption of Sensorimotor Network Connectivity in Patients With Supratentorial Gliomas During Mild Sedation With Midazolam: An Exploratory Interventional Study.

Journal of neurosurgical anesthesiology·2026

Sleep Quality and Its Independent Correlates in Patients with Diabetic Kidney Disease: A Retrospective Network.

International journal of general medicine·2026

A Candidate Syndromic Triad of Acne Keloidalis Nuchae, Dissecting Cellulitis, and Secondary Cutis Verticis Gyrata.

Clinical, cosmetic and investigational dermatology·2026

Related Experiment Videos

Neurological deterioration in adult phenylketonuria

Related Concept Videos

PKU patients on a relaxed diet may be at risk for micronutrient deficiencies.

Tetrahydrobiopterin responsiveness in a large series of phenylketonuria patients.

Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

Recessively inherited amyotrophic lateral sclerosis: a Germany family with the D90A CuZn-SOD mutation.

[X-chromosomal recessive spinobulbar muscular atrophy (Kennedy type). Description of a family, clinical aspects, molecular genetics, differential diagnosis and therapy].

Postexcitatory inhibition after transcranial magnetic stimulation of the motor cortex in patients with drug-induced parkinsonism and in healthy individuals.

Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa.

Treating a Disorder Caused by an Overactive Enzyme: BCKD-Kinase Deficiency.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders.

From Single Cells to Diagnosis: Proteomics Technologies in the Multi-Omics Landscape of Rare and Mitochondrial Diseases.

Role of arbutin and acetoside against Parkinson's disease.

Deep Medullary Vein Disruption and Glymphatic Dysfunction Are Associated With Cognitive Impairment and Imaging Burden in Cerebral Small-Vessel Disease.

Treatment of Functional Neurological Disorders.

Disruption of Sensorimotor Network Connectivity in Patients With Supratentorial Gliomas During Mild Sedation With Midazolam: An Exploratory Interventional Study.

Sleep Quality and Its Independent Correlates in Patients with Diabetic Kidney Disease: A Retrospective Network.

A Candidate Syndromic Triad of Acne Keloidalis Nuchae, Dissecting Cellulitis, and Secondary Cutis Verticis Gyrata.

Related Experiment Videos

Neurological deterioration in adult phenylketonuria

Related Concept Videos

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