An Autoinflammatory Disease Due to Homozygous Deletion of the <i>IL1RN</i> Locus

Sreelatha T. Reddy, Shuang Jia, Rhonda Geoffrey, +5

New England Journal of Medicine

Diagnosis and Localization of Focal Congenital Hyperinsulinism by 18F-Fluorodopa PET Scan

Olga T. Hardy, Miguel Hernandez‐Pampaloni, J.R. Saffer, +8

The Journal of Pediatrics

Positron Emission TomographyFocal Congenital HyperinsulinismMedical Imaging18F-fluorodopa Pet ScanPet-mri +7

Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs

Edward H. Schuchman, Mariko Suchi, Takayuki Takahashi, +2

Journal of Biological Chemistry

Type 1BiosynthesisCellular EnzymologyBiochemistryMedicine +13

Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.

Lothar E. Quintern, Edward H. Schuchman, Orna Levran, +5

The EMBO Journal

BiosynthesisHuman Acid SphingomyelinaseCellular EnzymologyBiochemistryNatural Sciences +6

ALK-positive histiocytosis: a new clinicopathologic spectrum highlighting neurologic involvement and responses to ALK inhibition

Paul G. Kemps, Jennifer Picarsic, Benjamin H. Durham, +77

Blood

Extremes of Clinical and Enzymatic Phenotypes in Children With Hyperinsulinism Caused by Glucokinase Activating Mutations

Samir Sayed, David R. Langdon, Stella Odili, +8

Diabetes

Preoperative Evaluation of Infants with Focal or Diffuse Congenital Hyperinsulinism by Intravenous Acute Insulin Response Tests and Selective Pancreatic Arterial Calcium Stimulation

Charles A. Stanley, Paul Thornton, Arupa Ganguly, +9

The Journal of Clinical Endocrinology & Metabolism

Diffuse Congenital HyperinsulinismElectrolyte DisorderNeonatologyPreoperative EvaluationPhysiology +11

Fetal Lung Interstitial Tumor (FLIT)

Megan K. Dishop, Eileen McKay, Portia A. Kreiger, +7

The American Journal of Surgical Pathology

MedicineMultiple Pulmonary NoduleSurgical PathologyEar MoldingPediatrics +11

Histopathology of Congenital Hyperinsulinism: Retrospective Study with Genotype Correlations

Mariko Suchi, Courtney MacMullen, Paul Thornton, +3

Pediatric and Developmental Pathology

Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism

Mariko Suchi, Courtney MacMullen, Paul Thornton, +4

Modern Pathology

Developmental AnomalyDevelopmental BiologyGenetic DisorderInherited Metabolic DiseaseCongenital Hyperinsulinism +6