✦ LIBER ✦

Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome

✍ Scribed by Patrick Niaudet; Laurence Heidet; Arnold Munnich; Jacques Schmitz; François Bouissou; Marie Claire Gubler; Agnès Rötig

Publisher: Springer
Year: 1994
Tongue: English
Weight: 1024 KB
Volume: 8
Category: Article
ISSN: 0931-041X
DOI: 10.1007/bf00865468

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Partial and complete de Toni-Debré-Fanco

Partial and complete de Toni-Debré-Fanconi syndrome after ifosfamide chemotherapy of childhood malignancy

✍ R. Rossi; J. H. H. Ehrich 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 268 KB

Neonatal De Toni-Debré-Fanconi syndrome

Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain

✍ U. Wendel; W. Ruitenbeek; H. A. C. M. Bentlage; R. C. A. Sengers; J. M. F. Trijb 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 358 KB

Clinical Heterogeneity in Mitochondrial

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

✍ Lacbawan, Felicitas ;Tifft, Cynthia J. ;Luban, Naomi L.C. ;Schmandt, Susanne M. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 2 views

The clinical presentation of mitochondrial DNA (mtDNA) disorders is quite diverse. Very often, the initial symptoms do not fit a specific disease, and diagnosis is difficult to make. We describe a patient who presented with macrocytic anemia. Extensive biochemical and clinical work-up failed to prov

Prenatal manifestation of pancytopenia i

Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion

✍ Almut Giese; Renate Kirschner-Schwabe; Katharina Blumchen; Lena Wronski; Shabnam 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 167 KB 👁 1 views

Deletion of mitochondrial DNA in a case

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)

✍ A. Rötig; V. Cormier; P. Chatelain; R. Francois; J. -M. Saudubray; P. Rustin; A. 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 203 KB

Co-existing point mutations of mitochond

Co-existing point mutations of mitochondrial DNA in a patient with a heart abnormality and Pearson syndrome-like symptoms

✍ Kae Munakata; Miki Bundo; Tadafumi Kato; Hiroaki Ono; Nobuo Sakura; Minoru Oosak 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB 👁 1 views