Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Charles A. Stanley, Yen K. Lieu, Betty Y.L. Hsu, +7

New England Journal of Medicine

MELAS: Clinical features, biochemistry, and molecular genetics

Emma Ciafaloni, Enzo Ricci, Sara Shanske, +16

Annals of Neurology

Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase

Antonella Spinazzola, Ramón Martí, Ichizo Nishino, +8

Journal of Biological Chemistry

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon, +12

The American Journal of Human Genetics

X-linked Gene G4.5Cardiac MuscleCardiomyopathyGeneticsMolecular Genetics +7

Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography–Tandem Mass Spectrometry

Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, +3

Clinical Chemistry

Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia

Enrico Zammarchi, Luca Filippi, Elio Novembre, +1

Metabolism

Electrolyte DisorderMetabolic DisorderPhysiologyDiabetesBiochemical Evaluation +5

Progress in expanded newborn screening for metabolic conditions by LC‐MS/MS in Tuscany: Update on methods to reduce false tests

Giancarlo la Marca, Sabrina Malvagia, Bruno Casetta, +3

Journal of Inherited Metabolic Disease

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

Amelia Morrone, Elena Pegoraro, C. Angelini, +3

Journal of Clinical Investigation

GeneticsProtein Kinase GeneTotal RnaDisease Gene IdentificationInsulin Signaling +18

Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings.

Andrea Rossi, R. Cerone, Roberta Biancheri, +5

PubMed

New Strategy for the Screening of Lysosomal Storage Disorders: The Use of the Online Trapping-and-Cleanup Liquid Chromatography/Mass Spectrometry

Giancarlo la Marca, Bruno Casetta, Sabrina Malvagia, +2

Analytical Chemistry

Molecular BiologyPathologyLysosomal Storage DisordersMass ScreeningRobust Method +22