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MATTHEW SCHUELKE, MD, PHD
MD, PHD
Pediatric Hematology & Oncology Physician
NPI: 1801461496Individual
Specialties, Licenses & Credentials
Pediatrics Physician
Pediatrics
Code: 208000000X
MT222415(PA)
Pediatric Hematology & Oncology PhysicianPrimary
Pediatrics — Pediatric Hematology-Oncology
Code: 2080P0207X
MT222415(PA)
Research & Publications (20)
Relating indices of knowledge structure coherence and accuracy to skill-based performance: Is there utility in using a combination of indices?
PMID 19594246·J Appl Psychol·2009
8-other
Myostatin mutation associated with gross muscle hypertrophy in a child.
PMID 15215484·N Engl J Med·2004
5-case
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
PMID 11891837·Ann Neurol·2002
5-case
New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods.
PMID 11978607·Clin Chem·2002
5-case
An economic method for the fluorescent labeling of PCR fragments.
PMID 10657137·Nat Biotechnol·2000
8-other
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients.
PMID 11013295·J Lipid Res·2000
4-observational
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy.
PMID 11094124·Neurology·2000
8-other
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).
PMID 19158098·Hum Mol Genet·2009
7-preclinical
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease.
PMID 18802676·J Mol Med (Berl)·2009
5-case
HomozygosityMapper--an interactive approach to homozygosity mapping.
PMID 19465395·Nucleic Acids Res·2009
8-other
Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
PMID 19489875·Clin Genet·2009
8-other
Comparative analysis of uncoupling protein 4 distribution in various tissues under physiological conditions and during development.
PMID 19646951·Biochim Biophys Acta·2009
4-observational
Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.
PMID 18504396·Horm Res·2008
5-case
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency.
PMID 18230681·FASEB J·2008
8-other
Spinal muscular atrophy with respiratory distress type 1 (SMARD1).
PMID 18263757·J Child Neurol·2008
8-other
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system.
PMID 18306232·Ann Neurol·2008
4-observational
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
PMID 18041031·Electrophoresis·2007
8-other
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 3401 CIVIC CENTER BLVD
PHILADELPHIA, PA 19104 - Phone
- (215) 590-1220
Quick Facts
- NPI
- 1801461496
- Entity Type
- Individual
- Gender
- Male
- Medicare
- Not confirmed
- Specialties
- 2
- Locations
- 1
- Publications
- 20
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