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HILARY MANDEL, M.D.
M.D.
Dermatology Physician
NPI: 1285669267Individual
Specialties, Licenses & Credentials
Dermatology PhysicianPrimary
Dermatology
Code: 207N00000X
190475(NY)D0063455(MD)04-27711(KS)117321(MO)59585(NJ)G87885(CA)
Research & Publications (20)
Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon).
PMID 15902549·J Inherit Metab Dis·2005
5-case
Phenotypic variability (heterogeneity) of peroxisomal disorders.
PMID 14713208·Adv Exp Med Biol·2003
6-review
The hepatic mitochondrial DNA depletion syndrome: ultrastructural changes in liver biopsies.
PMID 11584375·Hepatology·2001
8-other
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
PMID 11687800·Nat Genet·2001
8-other
Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis.
PMID 11113899·Prenat Diagn·2000
5-case
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
PMID 19308961·Am J Med Genet B Neuropsychiatr Genet·2010
8-other
Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
PMID 18853461·Hum Mutat·2009
5-case
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
PMID 19287243·Genet Med·2009
3-trial
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
PMID 19259137·Eur J Hum Genet·2009
5-case
Familial leukoencephalopathy with slowly progressive dystonia and ataxia.
PMID 19071044·Eur J Paediatr Neurol·2009
5-case
Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
PMID 19542901·Pediatr Res·2009
2-rct
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
PMID 18571143·Am J Hum Genet·2008
8-other
Erythroderma in a patient taking acitretin for plaque psoriasis.
PMID 18459522·J Drugs Dermatol·2008
5-case
Population screening in a Druze community: the challenge and the reward.
PMID 19092443·Genet Med·2008
8-other
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
PMID 18078773·Mol Genet Metab·2008
8-other
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
PMID 18179883·Am J Hum Genet·2008
8-other
Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B.
PMID 18347289·Arch Dermatol·2008
5-case
Concentric bladder wall thickening due to haemorrhage following suprapubic aspiration: ultrasound and CT features.
PMID 17684070·Br J Radiol·2007
5-case
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
PMID 17999356·Am J Hum Genet·2007
7-preclinical
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 16111 PLUMMER ST
SEPULVEDA, CA 91343 - Phone
- (818) 891-7711
Quick Facts
- NPI
- 1285669267
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 7
- Locations
- 1
- Publications
- 20
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