Results 71 to 80 of about 749,451 (200)

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families [PDF]

, 2010
Isolated complex I deficiency is the most frequently observed oxidative phosphorylation defect in children with mitochondrial disease, leading to a diverse range of clinical presentations, including Leigh syndrome.
Mazhor Al-Dosary, Worgan, L, Jones, S, Robert W. Taylor, Lisa Worgan, Saretzki, G, Mansour, S, Sahar Mansour, Michael Clarke, David R. Thorburn, Robert McFarland, Thorburn, DR, Vanessa E. Hogan, Emma L. Blakely, Al-Dosary, M, Simon Jones, Hogan, VE, Devlin, AM, Langping He, Tuppen, HAL, Gabriele Saretzki, Alston, CL, Blakely, EL, Morris, AA, Charlotte L. Alston, Taylor, RW, Tuppen, HA, Chrzanowska-Lightowlers, ZMA, Zofia M. A. Chrzanowska-Lightowlers, Andrew A. Morris, Chrzanowska-Lightowlers, ZM, Clarke, M, Anita M. Devlin, Helen A. L. Tuppen, He, L, McFarland, R   +35 more
core   +1 more source

Clinico-Etiological Study of Purpura Fulminans: Experience from a Tertiary-Care Children Hospital

Indian Dermatology Online Journal
Background: Purpura fulminans (PF) is a potentially fatal disease characterized by rapidly progressive purpura that evolves into cutaneous necrosis and gangrene.
Shaziya Kalam, Sahana M. Srinivas, M. L. Keshavamurthy, G. V. Basavaraja, Pragalatha Kumar   +4 more
doaj   +1 more source

Homozygous Protein C Deficiency in a Premature Infant- A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2017
Homozygous protein C deficiency is a rare autosomal recessive inherited disorder manifesting as neonatal purpura fulminans. A two-day-old male baby delivered at 31 weeks developed purpuric lesions over the left medial malleolus progressing to other ...
Ravi Teja Juloori, Febe Renjitha Suman, Rithika Rajendran, B Uma Maheswari   +3 more
doaj   +1 more source

Stroke in an Infant; Its Association with Antiphospholipid Antibody and Acquired Protein C and S Deficiencies

Iranian Journal of Allergy, Asthma and Immunology, 2004
We present the first reported case of antiphospholipid syndrome with stroke in an Iranian boy (7-month-old) who had two ischemic strokes within a period of 2 months.
Soroor Inaloo Mohammad Ghofrani
doaj  

Real-world treatment of patients with severe congenital protein C deficiency with protein C concentrate: A physician survey

Thrombosis Update
Introduction: Replacement therapy with intravenous (IV) protein C concentrate (Ceprotin®; Baxalta US Inc., a Takeda company, Lexington, MA, USA; Takeda Manufacturing Austria AG, Vienna, Austria) is an approved treatment approach for patients with severe ...
Michael Wang, Hans-Jörg Hertfelder, Elyse Swallow, Alexandra Greatsinger, Emma Billmyer, Samson Fung, Peter L. Turecek, Hanna T. Gazda, Csaba Siffel   +8 more
doaj   +1 more source

A novel mutation in the Surf1 gene in a child with leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

, 2002
We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral abnormal signal in the substantia nigra and in the subthalamic nucleus, suggestive
Minetti C., Bado M., Greco M., Lamba L. D., Rossi A., Bruno C., Biancheri R., Garavaglia B., Zeviani M., Biedi C.   +9 more
core   +1 more source

Long-term Subcutaneous Protein C Replacement in Neonatal Severe Protein C Deficiency

, 2011
We describe here the case of a boy who presented 2 days after birth with purpura fulminans on his feet and scalp. Laboratory investigations revealed signs of disseminated intravascular coagulation.
Paul P. T. Brons, Mathijs Binkhorst, Ellen H. M. de Kort, Sabine L. A. G. Vrancken, Marcel P. J. M. Cuppen, Arno F. J. van Heijst   +5 more
core   +2 more sources

The Level of C-Reactive Protein in the Blood Plasma of Young Adults with Childhood-Onset Growth Hormone Deficiency

Mìžnarodnij Endokrinologìčnij Žurnal, 2016
The article presents the data on the level of high-sensitivity C-reactive protein in the blood plasma of young adults with growth hormone deficiency that occurred in childhood and persists in adulthood.
O.V. Bolshova, T.O. Tkachova, O.A. Vyshnevska   +2 more
doaj   +1 more source

Two cases of venous thromboembolism in siblings after splenectomy due to a novel PROC gene mutation

Thrombosis Journal
Background Venous thromboembolism(VTE)is a common multifactorial disease. Anticoagulant protein deficiency is the most usual hereditary thrombophilia in the Chinese people, which includes protein C(PC), protein S and antithrombin deficiencies.
Yunfang Zhang, Bo Wang, Yuxin Bai, Anxin Wang   +3 more
doaj   +1 more source