[PDF][PDF] Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood
A Zeharia, A Shaag, RH Houtkooper, T Hindi… - The American Journal of …, 2008 - cell.com
Recurrent episodes of life-threatening myoglobinuria in childhood are caused by inborn
errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative …
errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative …
[PDF][PDF] Acute infantile liver failure due to mutations in the TRMU gene
A Zeharia, A Shaag, O Pappo, AM Mager-Heckel… - The American Journal of …, 2009 - cell.com
Acute liver failure in infancy accompanied by lactic acidemia was previously shown to result
from mtDNA depletion. We report on 13 unrelated infants who presented with acute liver …
from mtDNA depletion. We report on 13 unrelated infants who presented with acute liver …
Management of nontuberculous mycobacteria-induced cervical lymphadenitis with observation alone
A Zeharia, T Eidlitz-Markus… - The Pediatric …, 2008 - journals.lww.com
Background: Nontuberculous mycobacteria can cause a chronic localized cervicofacial
lymphadenitis in immunocompetent children. The recommended treatment is total excision …
lymphadenitis in immunocompetent children. The recommended treatment is total excision …
[PDF][PDF] Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1
L Basel-Vanagaite, N Zevit, AH Zahav, L Guo… - The American Journal of …, 2012 - cell.com
The molecular basis for primary hereditary hypertriglyceridemia has been identified in fewer
than 5% of cases. Investigation of monogenic dyslipidemias has the potential to expose key …
than 5% of cases. Investigation of monogenic dyslipidemias has the potential to expose key …
[PDF][PDF] Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction
K Koehler, M Malik, S Mahmood, S Gießelmann… - The American Journal of …, 2013 - cell.com
In guanosine diphosphate (GDP)-mannose pyrophosphorylase A (GMPPA), we identified a
homozygous nonsense mutation that segregated with achalasia and alacrima, delayed …
homozygous nonsense mutation that segregated with achalasia and alacrima, delayed …
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Y Frishberg, A Zeharia, R Lyakhovetsky… - Journal of Medical …, 2014 - jmg.bmj.com
Background The primary hyperoxalurias are a group of recessive kidney diseases,
characterised by extensive accumulation of calcium oxalate that progressively coalesces …
characterised by extensive accumulation of calcium oxalate that progressively coalesces …
Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene
A Zeharia, N Fischel-Ghodsian… - Journal of child …, 2005 - journals.sagepub.com
We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic
acidosis, and sideroblastic anemia. The patient, a product of consanguineous Persian Jews …
acidosis, and sideroblastic anemia. The patient, a product of consanguineous Persian Jews …
[HTML][HTML] Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit
A Zeharia, JR Friedman, A Tobar, A Saada… - European Journal of …, 2016 - nature.com
The mitochondrial inner membrane possesses distinct subdomains including cristae, which
are lamellar structures invaginated into the mitochondrial matrix and contain the respiratory …
are lamellar structures invaginated into the mitochondrial matrix and contain the respiratory …
Defining the phenotype and assessing severity in phosphoglucomutase-1 deficiency
Objective To define phenotypic groups and identify predictors of disease severity in patients
with phosphoglucomutase-1 deficiency (PGM1-CDG). Study design We evaluated 27 …
with phosphoglucomutase-1 deficiency (PGM1-CDG). Study design We evaluated 27 …
Association of age at onset of migraine with family history of migraine in children attending a pediatric headache clinic: a retrospective cohort study
T Eidlitz-Markus, Y Haimi-Cohen, A Zeharia - Cephalalgia, 2015 - journals.sagepub.com
Aim Migraine is known to run in families and has long been considered a strongly heritable
disorder. This study sought to evaluate the relationship between age at onset of pediatric …
disorder. This study sought to evaluate the relationship between age at onset of pediatric …