A novel mitochondrial DNA deletion in a patient with Pearson syndrome and neonatal diabetes mellitus provides insight into disease etiology, severity and progression

2015 ◽  
Vol 27 (4) ◽  
pp. 2492-2495 ◽  
Author(s):  
Xin-Yu Chen ◽  
Si-Yu Zhao ◽  
Yan Wang ◽  
Dong Wang ◽  
Chang-Hu Dong ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Mitochondrial Dna ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Mitochondrial Dna Deletion ◽  
Disease Etiology ◽  
Pearson Syndrome ◽  
Dna Deletion ◽  
Insight Into

scholarly journals Mitochondrial DNA deletion in an 8-year-old boy with pearson syndrome

1992 ◽  
Vol 15 (3) ◽  
pp. 327-330 ◽  
Author(s):  
K. E. Baerlocher ◽  
A. Feldges ◽  
M. Weissert ◽  
H. J. Simonsz ◽  
A. Rötig
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dna Deletion ◽  
Pearson Syndrome ◽  
Dna Deletion

scholarly journals Novel 5.712 kb mitochondrial DNA deletion in a patient with Pearson syndrome: A case report

2014 ◽  
Vol 11 (5) ◽  
pp. 3741-3745 ◽  
Author(s):  
JOONHONG PARK ◽  
HYEJIN RYU ◽  
WOORI JANG ◽  
HYOJIN CHAE ◽  
MYUNGSHIN KIM ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Case Report ◽  
Mitochondrial Dna Deletion ◽  
Pearson Syndrome ◽  
Dna Deletion

Clinical Heterogeneity in Mitochondrial DNA Deletion Disorders: A Diagnostic Challenge of Pearson Syndrome

2000 ◽  
Vol 95 (3) ◽  
pp. 266-268 ◽  
Author(s):  
Felicitas Lacbawan ◽  
Cynthia J. Tifft ◽  
Naomi L.C. Luban ◽  
Susanne M. Schmandt ◽  
Michael Guerrera ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Clinical Heterogeneity ◽  
Mitochondrial Dna Deletion ◽  
Diagnostic Challenge ◽  
Pearson Syndrome ◽  
Dna Deletion

scholarly journals A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome

2018 ◽  
Vol 72 (2) ◽  
pp. 148
Author(s):  
Rame Khasawneh ◽  
Hala Alsokhni ◽  
Bayan Alzghoul ◽  
Asim Momani ◽  
Nazih Abualsheikh ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dna Deletion ◽  
Pearson Syndrome ◽  
Dna Deletion

scholarly journals Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

2002 ◽  
Vol 71 (3) ◽  
pp. 679-683 ◽  
Author(s):  
Sara Shanske ◽  
Yingying Tang ◽  
Michio Hirano ◽  
Yutaka Nishigaki ◽  
Kurenai Tanji ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Mitochondrial Dna Deletion ◽  
Pearson Syndrome ◽  
Dna Deletion

25-OR: Investigating a Candidate Causal Allele in Type 2 Diabetes Susceptibility Gene PAM as a Cause of Neonatal Diabetes Mellitus

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 25-OR
Author(s):  
SHAHANA SENGUPTA ◽  
LORI L. BONNYCASTLE ◽  
BENOIT HASTOY ◽  
ANTJE GROTZ ◽  
MAHESH M. UMAPATHYSIVAM ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Susceptibility Gene ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Diabetes Susceptibility ◽  
Diabetes Susceptibility Gene ◽  
Causal Allele

scholarly journals Correction to: Neonatal Diabetes Mellitus: Novel Mutations

2021 ◽  
Author(s):  
Sapna Nayak ◽  
Aditya Narayan Sarangi ◽  
Saroj Kumar Sahoo ◽  
Pragya Mangla ◽  
Manoranjan Tripathy ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Neonatal Diabetes ◽  
Neonatal Diabetes Mellitus ◽  
Novel Mutations
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