Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase

Paige Kaplan, Alice Mazur, Orly Manor, +6

The Journal of Pediatrics

Gaucher DiseaseHuman GrowthPediatricsEducationSubstrate Reduction Therapy +2

Intellectual outcome in children with maple syrup urine disease

Paige Kaplan, Alice Mazur, Maxine Field, +5

The Journal of Pediatrics

Intellectual ImpairmentUrologyPediatricsDevelopmental DisorderMedicine +2

Long-term treatment of familial hypophosphatemic rickets with oral phosphate and 1α-hydroxyvitamin D3

Howard Rasmussen, Maurice M. Pechet, Constantine S. Anast, +3

The Journal of Pediatrics

Oral PhosphateInherited Metabolic DiseaseClinical NutritionLong-term TreatmentParathyroid Hormone +6

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

Paige Kaplan, Alice Mazur, Michael Palmieri, +1

Molecular Genetics and Metabolism

TransplantationHepatologyLiver PhysiologyPathologyAcute Liver Failure +5

Early diagnosis of juvenile renal osteodystrophy

Michael E. Norman, Alice Mazur, Spencer Borden, +4

The Journal of Pediatrics

Early DiagnosisUrologyRenal PathologyDiagnosisMedicine +2

In vivo evidence of brain galactitol accumulation in an infant with galactosemia and encephalopathy

Gerard T. Berry, Jill V. Hunter, Zhiyue Wang, +6

The Journal of Pediatrics

PhysiologyNeurologyVivo EvidenceBrain Galactitol Accumulation

Urinary Galactonate in Patients with Galactosemia: Quantitation by Nuclear Magnetic Resonance Spectroscopy

Suzanne Wehrli, Gerard T. Berry, Michael Palmieri, +3

Pediatric Research

Urological ResearchUrologyPhysiologyMedicineNephrology +1

25-Hydroxyvitamin D3 (calcifediol) therapy of juvenile renal osteodystrophy: Beneficial effect on linear growth velocity

Craig B. Langman, Alice Mazur, Roland Baron, +1

The Journal of Pediatrics

Bone DiseaseUrologyBone HealthLinear Growth VelocityBeneficial Effect +9

Galactose Breath Testing Distinguishes Variant and Severe Galactose-1-Phosphate Uridyltransferase Genotypes

Gerard T. Berry, Rani H. Singh, Alice Mazur, +8

Pediatric Research

BiologyMedicineGeneticsGenetic VariationGenomics +1

Urine and plasma galactitol in patients with galactose-1-phosphate uridyltransferase deficiency galactosemia

Michael Palmieri, Alice Mazur, Gerard T. Berry, +9

Metabolism

Urological ResearchUrologyMedicineDiabetesRenal Pathology +4