Malonyl-CoA decarboxylase deficiency: Long-term follow-up of a patient new clinical features and novel mutations

2015 ◽  
Vol 37 (1) ◽  
pp. 107-113 ◽  
Author(s):  
Padmini P. Polinati ◽  
Leena Valanne ◽  
Tiina Tyni
Keyword(s):  
Clinical Features ◽  
Novel Mutations ◽  
Malonyl Coa ◽  
Long Term Follow Up ◽  
Decarboxylase Deficiency

Protein mislocalization and long-term follow-up of a patient with malonyl-CoA decarboxylase deficiency

Mitochondrion ◽  
2011 ◽  
Vol 11 (4) ◽  
pp. 639
Author(s):  
Padmini P. Polinati⁎ ◽  
Eva Roomets ◽  
Tiina Tyni
Keyword(s):  
Malonyl Coa ◽  
Long Term Follow Up ◽  
Decarboxylase Deficiency

scholarly journals Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

2019 ◽  
Vol 128 (1-2) ◽  
pp. 113-121 ◽  
Author(s):  
Cristel Chapel-Crespo ◽  
Dimitar Gavrilov ◽  
Mary Sowa ◽  
Jessica Myers ◽  
Debra-Lynn Day-Salvatore ◽  
...  
Keyword(s):  
Molecular Characteristics ◽  
Malonyl Coa ◽  
Long Term Follow Up ◽  
Decarboxylase Deficiency

Clinical Features and Long-Term Follow-Up of 20 Cases of Parakeratosis Pustulosa

2009 ◽  
Vol 15 (4) ◽  
pp. 259-263 ◽  
Author(s):  
Antonella Tosti ◽  
Anna Maria Peluso ◽  
Valeria Zucchelli
Keyword(s):  
Clinical Features ◽  
Long Term Follow Up

Medullary Thyroid Carcinoma: Clinical Features and Long-Term Follow-up of Seventy-Eight Patients Treated Between 1969 and 1986

Thyroid ◽  
1998 ◽  
Vol 8 (6) ◽  
pp. 517-523 ◽  
Author(s):  
M.E. GIRELLI ◽  
D. NACAMULLI ◽  
M.R. PELIZZO ◽  
D. DE VIDO ◽  
C. MIAN ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Medullary Thyroid Carcinoma ◽  
Clinical Features ◽  
Medullary Thyroid ◽  
Long Term Follow Up

Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: An Italian multicenter study

2008 ◽  
Vol 126 (2) ◽  
pp. 155-164 ◽  
Author(s):  
Baldassarre Martire ◽  
Roberto Rondelli ◽  
Annarosa Soresina ◽  
Claudio Pignata ◽  
Teresa Broccoletti ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Clinical Features ◽  
Multicenter Study ◽  
Large Cohort ◽  
Granulomatous Disease ◽  
Long Term Follow Up

scholarly journals Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

Medicine ◽  
2008 ◽  
Vol 87 (6) ◽  
pp. 301-310 ◽  
Author(s):  
Jeroen C. H. van der Hilst ◽  
Evelien J. Bodar ◽  
Karyl S. Barron ◽  
Joost Frenkel ◽  
Joost P. H. Drenth ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Clinical Features ◽  
Long Term Follow Up

scholarly journals Clinical Features and Long-Term Follow-Up of Patients with Retinoblastoma in Turkish Children Older Than 5 Years of Age

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Zafer Cebeci ◽  
Samuray Tuncer ◽  
Rejin Kebudi
Keyword(s):  
Clinical Features ◽  
Treatment Options ◽  
Older Children ◽  
Long Term Outcomes ◽  
Turkish Children ◽  
Turkish Patient ◽  
Long Term Follow Up ◽  
Salvage Rate

Purpose. The diagnosis and management of retinoblastoma can be difficult in older children. This study reports the clinical features and long-term outcomes of such patients in a Turkish patient population. Methods. Medical records of 18 patients, between January 1992 and December 2017, were reviewed retrospectively. Results. Of 298 consecutive patients with retinoblastoma, 18 (6%) were at the age of 5 years and older. The median age at diagnosis was 9 years (range, 5–18 years). Misdiagnosis was noted in 8 patients (44.4%). Treatment options included enucleation in 16 patients (88.8%), adjuvant systemic chemotherapy in 3 (16.6%), intra-arterial chemotherapy in one (5.5%), and additional orbital irradiation in one (5.5%). After a median follow-up of 97 months (range, 6–252 months), all patients survived without any recurrence. Conclusions. Our series showed that 6% of patients with retinoblastoma were 5 years of age and older. Over a 15-year period, ocular salvage rate of 11.2% and survival rate of 100% were attained.

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