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Primary carnitine deficiency is a disorder of fatty acid oxidation caused by mutations in the Na+-dependent carnitine/organic cation transporter OCTN2. Studies with tyrosyl group-modifying reagents support the involvement of tyrosine residues in Na+ binding by sodium-coupled transporters. Here we report two new patients with carnitine deficiency caused by(More)
Velaglucerase alfa is a glucocerebrosidase produced by gene activation technology in a human fibroblast cell line (HT-1080), and it is indicated as an enzyme replacement therapy (ERT) for the treatment of Gaucher disease type 1 (GD1). This multicenter, open-label, 12-month study examined the safety and efficacy of velaglucerase alfa in patients with GD1(More)
Inherited disorders of vitamin B12 (cobalamin) have provided important clues to how this vitamin, which is essential for hematological and neurological function, is transported and metabolized. We describe a new disease that results in failure to release vitamin B12 from lysosomes, which mimics the cblF defect caused by LMBRD1 mutations. Using(More)
OBJECTIVES To compare the efficacy and safety of tamsulosin and silodosin in the context of medical expulsive therapy (MET) of distal ureteric stones. PATIENTS AND METHODS Observational data were collected retrospectively from patients who received silodosin (N = 50) or tamsulosin (N = 50) as MET from January 2012 to January 2013. Inclusion criteria were:(More)
Without intervention, classic galactosemia is a potentially fatal disorder in infancy. With the benefit of early diagnosis and dietary restriction of galactose, the acute sequelae of classic galactosemia can be prevented or reversed. However, despite early and lifelong dietary treatment, many galactosemic patients go on to experience serious long-term(More)
OBJECTIVE To compare the oncological outcomes of patients who underwent elective partial nephrectomy (PN) or radical nephrectomy (RN) for clinically organ-confined renal masses ≤7 cm in size (cT1). PATIENTS AND METHODS The records of 3480 patients with cT1N0M0 disease were extracted from a multi-institutional database and analyzed retrospectively. (More)
BACKGROUND Extracorporeal shock wave therapy (ESWT) is a conservative therapy for patients with Peyronie's disease (PD). OBJECTIVE To investigate the effects of ESWT in patients with PD. DESIGN, SETTING, AND PARTICIPANTS One hundred patients with a history of PD not >12 mo who had not had previous PD-related treatments were enrolled in a prospective,(More)
Creatine is a nitrogen containing compound that serves as an energy shuttle between the mitochondrial sites of ATP production and the cytosol where ATP is utilized. There are two known disorders of creatine synthesis (both transmitted as autosomal recessive traits: arginine: glycine amidinotransferase (AGAT) deficiency; OMIM 602360; and guanidinoacetate(More)
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism. Patients may present with brain atrophy, macrocephaly, and acute dystonia secondary to striatal degeneration typically triggered by an infection, fever, and/or dehydration. This disorder is identified on expanded newborn screening by(More)
OBJECTIVE To compare the perioperative, pathological and functional outcomes in two contemporary, large series of patients in different institutions and who underwent open partial nephrectomy (OPN) or robot-assisted PN (RAPN) for suspected renal tumours. PATIENTS AND METHODS This was a retrospective, multicentre, international, matched-pair analysis(More)