15 Result(s)

Article

4H to 3C Polytypic Transformation in Al⁺ Implanted SiC During High Temperature Annealing

Polytypism in SiC has created interest and opportunity for device heterostructures and bandgap engineering in power electronic applications. As each SiC polytype possesses a different bandgap, electron mobilit...

L. Kuebler, E. Hershkovitz, D. Kouzminov, H.-J. Gossmann… in Electronic Materials Letters (2024)

Article

Prevalence of Heteroepitaxial Recrystallization in the Low Solvus High Refractory (LSHR) γ–γ′ Superalloy

Heteroepitaxial recrystallization (HeRX) is a recently discovered recrystallization mechanism that can occur during thermomechanical processing of Ni-base superalloys. It is important to understand this mechan...

Y. Lee, E. Hershkovitz, H. Kim, K. N. Wertz… in Metallography, Microstructure, and Analysis (2024)

Article

Pulmonary involvement in Niemann-Pick C type 1

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 cholesterol trafficking. The estimated prevalence of NP...

Orna Staretz-Chacham, M. Aviram, I. Morag, A. Goldbart… in European Journal of Pediatrics (2018)

Article

Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques

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 levels of uric acid, one of the potent low-molecular-w...

E. Koren, J. Lipkin, A. Klar, E. Hershkovitz… in Journal of Inherited Metabolic Disease (2009)

Article

Carnitine-acylcarnitine translocase deficiency: Identification of a novel molecular defect in a Bedouin patient

Summary: Carnitine-acylcarnitine translocase CACT deficiency is a very rare autosomal recessive disease. The neonatal phenotype of CACT deficiency is characterized by hypoketotic hypoglycaemia, hyperammonaemia, c...

D. Galron, O. S. Birk, A. Kazanovitz, S. W. Moses… in Journal of Inherited Metabolic Disease (2004)

Article

Continuous glucose monitoring in children with glycogen storage disease type I

Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to...

E. Hershkovitz, A. Rachmel, H. Ben-Zaken… in Journal of Inherited Metabolic Disease (2001)

Article

Micropituitarism and cortical dysplasia: an unknown association of two uncommon CNS disorders

We describe a case of two known pathologies of the CNS in an unusual association: the concomitant presentation of the micropituitarism and cortical dysplasia. To our knowledge, this association is unreported ...

G. Blinder, J. Corat-Simon, E. Hershkovitz in European Radiology (2001)

Article

Blood lipids and endothelial function in glycogen storage disease type III

We have assessed early indicators of arterial disease in patients with glycogen storage disease type III (GSD III; McKusick 232400), investigating the plasma lipid and lipoprotein profile and endothelial funct...

E. Hershkovitz, A. Donald, M. Mullen, P. J. Lee… in Journal of Inherited Metabolic Disease (1999)

Article

Increase of serum lipoprotein (a) levels during growth hormone therapy in normal short children

We studied the effect of growth hormone (GH) therapy on serum lipoprotein levels and the atherogenic index in short children without GH deficiency. Fasting blood samples were collected from ten (eight males) ...

E. Hershkovitz, O. Belotserkovsky, Y. Limony… in European Journal of Pediatrics (1998)

Article

Two new mutations in the 3′ coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient

Glycogen storage disease type III (GSD III) is an autosomal recessive disease caused by the deficiency of glycogen debranching enzyme (AGL). We report the finding of two new mutations in a GSD IIIa Ashkenazi J...

R. Parvari, J. Shen, E. Hershkovitz, Y. T. Chen… in Journal of Inherited Metabolic Disease (1998)

Article

RFLPs for linkage analysis in families with glycogen storage disease type III

A. Mishori-Dery, N. Bashan, S. Moses… in Journal of Inherited Metabolic Disease (1995)

Article

Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab

Glycogen storage disease type 1a (GSD 1a), an autosomal recessive disease, is caused by the inactivity of glucose-6-phosphatase, the gene of which has been recently cloned. We report on the missense mutation C...

R. Parvari, S. Moses, E. Hershkovitz, R. Carmi… in Journal of Inherited Metabolic Disease (1995)