E Hershkovitz
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Explore the profile of E Hershkovitz including associated specialties, affiliations and a list of published articles.
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44
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348
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Recent Articles
1.
Hazan G, Hershkovitz E, Staretz-Chacham O
Orphanet J Rare Dis
. 2020 Nov;
15(1):331.
PMID: 33239050
Background: Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in...
2.
Bistritzer J, Noyman I, Hazan G, Hershkovitz E, Haim A
Clin Neurol Neurosurg
. 2020 Jun;
195:105901.
PMID: 32544771
Objective: To determine if treatment with ACTH for infantile spasms (IS) is associated with secondary adrenal insufficiency. Patients And Methods: This is a retrospective study of patients diagnosed with infantile...
3.
Staretz-Chacham O, Aviram M, Morag I, Goldbart A, Hershkovitz E
Eur J Pediatr
. 2018 Aug;
177(11):1609-1615.
PMID: 30066180
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 NPC...
4.
Shahrour M, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, et al.
Clin Genet
. 2016 Aug;
91(5):690-696.
PMID: 27573165
Mitochondrial encephalopathies are a heterogeneous group of disorders that, usually carry grave prognosis. Recently a homozygous mutation, Gly372Ser, in the TIMM50 gene, was reported in an abstract form, in three...
5.
Shalitin S, Ashkenazi-Hoffnung L, Yackobovitch-Gavan M, Nagelberg N, Karni Y, Hershkovitz E, et al.
Horm Res
. 2009 Oct;
72(5):287-301.
PMID: 19844115
Aims: To compare the short- and long-term effects of intervention programs on body weight and cardiometabolic risk factors. Methods: 162 obese children (6-11 years) were randomly assigned to three 12-week...
6.
Koren E, Lipkin J, Klar A, Hershkovitz E, Ginsburg I, Kohen R
J Inherit Metab Dis
. 2009 Sep;
32(5):651.
PMID: 19728140
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...
7.
Limony Y, Leiberman E, Hershkovitz E
Horm Res
. 2004 Aug;
62(3):119-23.
PMID: 15286447
Objective: To determine whether the childhood component of the infancy-childhood-puberty (ICP) model is appropriate for growth analysis of short Israeli children. Subjects And Methods: From 204 short, prepubertal children, 2-16...
8.
Galron D, Birk O, Kazanovitz A, Moses S, Hershkovitz E
J Inherit Metab Dis
. 2004 May;
27(2):267-73.
PMID: 15159657
Carnitine-acylcarnitine translocase CACT deficiency is a very rare autosomal recessive disease. The neonatal phenotype of CACT deficiency is characterized by hypoketotic hypoglycaemia, hyperammonaemia, cardiomyopathy and skeletal muscle weakness culminating in...
9.
Hershkovitz E, Rachmel A, Phillip M
J Inherit Metab Dis
. 2002 Mar;
24(8):863-9.
PMID: 11916320
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...
10.
Shorer Z, Moses S, Hershkovitz E, Pinsk V, Levy J
Pediatr Neurol
. 2001 Dec;
25(5):397-400.
PMID: 11744315
Thirteen patients with congenital insensitivity to pain and anhidrosis, carrying a mutation at the TRK-A gene, were studied. Neurologic examination revealed vestigial pain sensitivity, suggesting an incomplete involvement of the...