The role of carnitine supplementation in valproic acid therapy

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Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

Journal of medical genetics·2007

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

American journal of medical genetics. Part A·2006

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

European journal of medical genetics·2006

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

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Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

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CART-Cell Therapy in Pediatric Acute Lymphoblastic Leukemia: A Review for General Pediatricians.

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Clinicians' Experiences With Law Enforcement in a Pediatric Emergency Department.

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Flourishing Childhood Frameworks: A Scoping Review.

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Frontiers in endocrinology·2026

Perspectives on the Nutritional Paradox in Uremia: A "Sensitize-Then-Feed" Framework for Protein-Energy Wasting.

Advances in nutrition (Bethesda, Md.)·2026

Coenzyme Q10 supplementation restores mitochondrial respiration in patients with primary CoQ10 deficiency caused by novel COQ2 and COQ4 variants.

Metabolic brain disease·2026

Reversible Cognitive Impairment Associated With Severe Vitamin B12 Deficiency Despite Normal Hemoglobin.

Journal of general and family medicine·2026

Exocrine Pancreatic Insufficiency and Nutritional Status in Patients with Resectable and Borderline Resectable Periampullary Tumors: A Prospective Longitudinal Study.

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Preoperative CONUT Score Stratifies Risk of Readmission After Posterior Cervical Decompression and Fusion.

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The role of carnitine supplementation in valproic acid therapy

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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts.

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

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Case Report: A rare case of concurrent diabetic ketoacidosis and severe acute pancreatitis, followed by Guillain-Barré syndrome and Wernicke's encephalopathy.

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Coenzyme Q10 supplementation restores mitochondrial respiration in patients with primary CoQ10 deficiency caused by novel COQ2 and COQ4 variants.

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The role of carnitine supplementation in valproic acid therapy

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