Hyperuricemia, gout, and the executive suite

Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

Journal of inherited metabolic disease·2007

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

Journal of inherited metabolic disease·2006

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Neuropediatrics·2004

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

Journal of inherited metabolic disease·2004

The Sonic Hedgehog-Gli pathway regulates dorsal brain growth and tumorigenesis.

Development (Cambridge, England)·2001

Phenotype and genotype variation in primary carnitine deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics·2001

Prognostic Value of Blood-Based P-Tau217 Levels for Progression to Cognitive Impairment.

JAMA·2026

Ceperognastat in Early Symptomatic Alzheimer Disease: A Randomized Clinical Trial.

JAMA·2026

Amyloid PET Quantitation and Centiloid Thresholds in the Diagnosis of Alzheimer Disease: An Individual Participant Data Meta-Analysis.

JAMA·2026

Clinicopathologic Evaluation of Amyloid Clearance in Alzheimer Disease.

JAMA·2026

YEARS Algorithm for Diagnosis of Suspected Pulmonary Embolism in Patients With Cancer: A Randomized Clinical Trial.

JAMA·2026

Reliability and validity study of the Obsessive-Compulsive Inventory-Child Version (OCI-CV).

Dusunen adam : Bakirkoy Ruh ve Sinir Hastaliklari Hastanesi yayin organi·2026

Ophthalmological injuries in isolated orbital fractures: which patients need evaluation?

The British journal of oral & maxillofacial surgery·2026

Defining genetic and physiopathological bases of orbital hypertelorism: about a systematic literature review.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery·2026

Opioid Use Disorder and Treatment Uptake among Patients with Rheumatic Conditions in the All of Us Research Program: A Descriptive Analysis.

Arthritis care & research·2026

Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study.

Muscle & nerve·2026

Comparison of arthroscopic microfracture efficacy in osteochondral lesions of the talus with and without urate deposition.

Foot and ankle surgery : official journal of the European Society of Foot and Ankle Surgeons·2026

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Hyperuricemia, gout, and the executive suite

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Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation.

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy.

The Sonic Hedgehog-Gli pathway regulates dorsal brain growth and tumorigenesis.

Phenotype and genotype variation in primary carnitine deficiency.

Prognostic Value of Blood-Based P-Tau217 Levels for Progression to Cognitive Impairment.

Ceperognastat in Early Symptomatic Alzheimer Disease: A Randomized Clinical Trial.

Amyloid PET Quantitation and Centiloid Thresholds in the Diagnosis of Alzheimer Disease: An Individual Participant Data Meta-Analysis.

Clinicopathologic Evaluation of Amyloid Clearance in Alzheimer Disease.

YEARS Algorithm for Diagnosis of Suspected Pulmonary Embolism in Patients With Cancer: A Randomized Clinical Trial.

Reliability and validity study of the Obsessive-Compulsive Inventory-Child Version (OCI-CV).

Ophthalmological injuries in isolated orbital fractures: which patients need evaluation?

Defining genetic and physiopathological bases of orbital hypertelorism: about a systematic literature review.

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