SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance

Giuseppe Borsani, Maria Teresa Bassi, Maria Pia Sperandeo, +9

Nature Genetics

Putative Permease-related ProteinLysinuric Protein IntoleranceAllergyAutoimmune DiseaseMedicine +4

Selective non-operative management of solid organ injury following abdominal gunshot wounds

Joseph J. DuBose, Kenji Inaba, Pedro G. Teixeira, +3

Injury

Trauma ResuscitationSelective Non-operative ManagementTrauma SurgeryOrgan InjurySurgery +8

Fall from heights: does height really matter?

G. Alizo, Jason D. Sciarretta, S. Gibson, +4

European Journal of Trauma and Emergency Surgery

Fall PreventionPhysical ActivityKinesiologyBody SizeAnthropometric Indicator +2

Timing of Central Venous Catheter Exchange and Frequency of Bacteremia in Burn Patients

Booker King, Carl I. Schulman, Antonio Pepe, +3

Journal of Burn Care & Research

Venous DiseaseCatheter InfectionsMedicineHealthcare-associated InfectionPatient Safety +10

Molecular analysis of patients affected by homocystinuria due to cystathionine β‐synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11

Maria Pia Sperandeo, Maria Panico, Antonio Pepe, +5

Journal of Inherited Metabolic Disease

New MutationMendelian DisorderGenetic DisorderGeneticsMolecular Biology +5

Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene

Maria Pia Sperandeo, Patrizia Annunziata, Virginia Ammendola, +6

Human Mutation

Multidisciplinary team approach to traumatic spinal cord injuries: a single institution’s quality improvement project

Georgina Alizo, Jason D. Sciarretta, S. Gibson, +6

European Journal of Trauma and Emergency Surgery

Quality Improvement ProjectSpinal Cord InjurySingle Institution ’Spinal TraumaSport-related Injuries +9

SLC7A8, a Gene Mapping within the Lysinuric Protein Intolerance Critical Region, Encodes a New Member of the Glycoprotein-Associated Amino Acid Transporter Family

Maria Teresa Bassi, Maria Pia Sperandeo, Barbara Incerti, +12

Genomics

Protein SecretionProtein FunctionSignal TransductionMolecular PhysiologyBiochemistry +10

Reduced MIBG accumulation of the parotid and submandibular glands in idiopathic Parkinson's disease

Jaweed Haqparwar, Antonio Pepe, Klaus Faßbender, +5

Parkinsonism & Related Disorders

Submandibular GlandsIdiopathic ParkinsonMibg AccumulationPathologyNeuroscience +3

Golf Cart–related Injuries: A Community at Risk

Jason D. Sciarretta, Taylor Harris, Andrea Romano, +2

The American Surgeon

Sport Injury PreventionSafety ScienceTransport AccidentTransport SafetyRehabilitation +6