Search Results - "Hershkovitz, E"
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Incidence of inherited metabolic disorders in southern Israel: a comparison between consanguinity and non-consanguinity communities
Published in Orphanet journal of rare diseases (25-11-2020)“…Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most…”
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Pulmonary involvement in Niemann-Pick C type 1
Published in European journal of pediatrics (01-11-2018)“…Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular…”
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3
Adrenal function following ACTH therapy for infantile spasms: A retrospective study
Published in Clinical neurology and neurosurgery (01-08-2020)“…•ACTH is an effective treatment in infantile spasms, but the risk for secondary adrenal insufficiency hasn’t been investigated enough.•In our study we wanted…”
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4
4H to 3C Polytypic Transformation in Al+ Implanted SiC During High Temperature Annealing
Published in Electronic materials letters (01-05-2024)“…Polytypism in SiC has created interest and opportunity for device heterostructures and bandgap engineering in power electronic applications. As each SiC…”
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Somapacitan, a once‐weekly reversible albumin‐binding GH derivative, in children with GH deficiency: A randomized dose‐escalation trial
Published in Clinical endocrinology (Oxford) (01-10-2017)“…Summary Objective To evaluate the safety, local tolerability, pharmacodynamics and pharmacokinetics of escalating single doses of once‐weekly somapacitan, a…”
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Prevalence of Heteroepitaxial Recrystallization in the Low Solvus High Refractory (LSHR) γ–γ′ Superalloy
Published in Metallography, microstructure, and analysis (01-02-2024)“…Heteroepitaxial recrystallization (HeRX) is a recently discovered recrystallization mechanism that can occur during thermomechanical processing of Ni-base…”
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Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations
Published in Clinical genetics (01-05-2017)“…Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the…”
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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome
Published in Journal of medical genetics (01-03-2011)“…The TMEM70 gene defect was recently identified as a novel cause of autosomal recessive ATP synthase deficiency. Most of the 28 patients with TMEM70 disorder…”
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Effects of a twelve-week randomized intervention of exercise and/or diet on weight loss and weight maintenance, and other metabolic parameters in obese preadolescent children
Published in Hormone research (01-01-2009)“…To compare the short- and long-term effects of intervention programs on body weight and cardiometabolic risk factors. 162 obese children (6-11 years) were…”
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10
Automated identification of RNA conformational motifs: theory and application to the HM LSU 23S rRNA
Published in Nucleic acids research (01-11-2003)“…We develop novel methods for recognizing and cataloging conformational states of RNA, and for discovering statistical rules governing those states. We focus on…”
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Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques
Published in Journal of inherited metabolic disease (01-10-2009)“…It has been suggested that the very low incidence of atherosclerosis in glycogen storage disease type Ia (GSD Ia) subjects might be attributed to elevated…”
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12
Statistical analysis of RNA backbone
Published in IEEE/ACM transactions on computational biology and bioinformatics (01-01-2006)“…Local conformation is an important determinant of RNA catalysis and binding. The analysis of RNA conformation is particularly difficult due to the large number…”
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13
Continuous glucose monitoring in children with glycogen storage disease type I
Published in Journal of inherited metabolic disease (01-12-2001)“…Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting…”
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14
348P Long-term opioid use following treatment of localized breast cancer: A real-world analysis
Published in Annals of oncology (01-10-2023)Get full text
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15
Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-12-2004)“…Hypoparathyroidism, retardation, and dysmorphism (HRD) is a newly recognized genetic syndrome, described in patients of Arab origin. The syndrome consists of…”
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The childhood component of the ICP model is appropriate for growth analysis of short Israeli children
Published in Hormone research (01-01-2004)“…To determine whether the childhood component of the infancy-childhood-puberty (ICP) model is appropriate for growth analysis of short Israeli children. From…”
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The role of carbon capping and Ar pressure on SiC surface degradation during high temperature annealing
Published in Applied surface science (15-10-2024)“…[Display omitted] •SiC surface degradation morphology impacted by the use of a protective carbon cap.•Decreasing Ar pressure to 76 Torr results in severe…”
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18
Decreased first phase insulin response in children with congenital insensitivity to pain with anhidrosis
Published in Journal of pediatric endocrinology & metabolism : JPEM (01-01-2005)“…Nerve growth factor (NGF) and its receptor tyrosine kinase A (TrkA) participate in endocrine pancreas morphogenesis and insulin secretion in vitro. Mutations…”
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Micropituitarism and cortical dysplasia: an unknown association of two uncommon CNS disorders
Published in European radiology (01-01-2001)“…We describe a case of two known pathologies of the CNS in an unusual association: the concomitant presentation of the micropituitarism and cortical dysplasia…”
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Carnitine‐acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient
Published in Journal of inherited metabolic disease (01-01-2004)“…Carnitine‐acylcarnitine translocase CACT deficiency is a very rare autosomal recessive disease. The neonatal phenotype of CACT deficiency is characterized by…”
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