Molecular Genetics and Metabolism Reports
Latest Publications

TOTAL DOCUMENTS

830
(FIVE YEARS 287)

H-INDEX

18
(FIVE YEARS 4)

Published By Elsevier

2214-4269
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

scholarly journals Sjögren-Larsson syndrome: A biochemical rationale for using aldehyde-reactive therapeutic agents

2022 ◽  
Vol 30 ◽  
pp. 100839
Author(s):  
William B. Rizzo ◽  
Dana S'aulis ◽  
Elizabeth Dorwart ◽  
Zachary Bailey
Keyword(s):  
Therapeutic Agents ◽  
Larsson Syndrome

scholarly journals A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome

2022 ◽  
Vol 30 ◽  
pp. 100830
Author(s):  
L. Lenzini ◽  
M. Carecchio ◽  
E. Iori ◽  
A. Legati ◽  
E. Lamantea ◽  
...  
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Leigh Syndrome

scholarly journals Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

2022 ◽  
Vol 30 ◽  
pp. 100836
Author(s):  
Jaka Sikonja ◽  
Jernej Brecelj ◽  
Mojca Zerjav Tansek ◽  
Barbka Repic Lampret ◽  
Ana Drole Torkar ◽  
...  
Keyword(s):  
Genetic Characteristics ◽  
Tyrosinemia Type 1 ◽  
Fumarylacetoacetate Hydrolase

scholarly journals Hematopoietic cell transplantation for sialidosis type I

2022 ◽  
Vol 30 ◽  
pp. 100832
Author(s):  
Ashish O. Gupta ◽  
Marc C. Patterson ◽  
Tim Wood ◽  
Julie B. Eisengart ◽  
Paul J. Orchard ◽  
...  
Keyword(s):  
Cell Transplantation ◽  
Hematopoietic Cell Transplantation ◽  
Hematopoietic Cell ◽  
Type I

scholarly journals Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature

2022 ◽  
Vol 30 ◽  
pp. 100835
Author(s):  
Ali Al-Otaibi ◽  
Alaa AlAyed ◽  
Asma Al Madhi ◽  
Leena Saeed ◽  
Bobby G. Ng ◽  
...  
Keyword(s):  
Case Report ◽  
Epileptic Encephalopathy ◽  
Review Of Literature ◽  
Uridine Monophosphate

scholarly journals Usefulness of serum BUN or BUN/creatinine ratio as markers for citrin deficiency in positive cases of newborn screening

2022 ◽  
Vol 30 ◽  
pp. 100834
Author(s):  
Toshihiro Suzuki ◽  
Yoichi Wada ◽  
Yasuko Mikami-Saito ◽  
Atsuo Kikuchi ◽  
Shigeo Kure
Keyword(s):  
Newborn Screening ◽  
Creatinine Ratio ◽  
Citrin Deficiency

scholarly journals Long-term outcome of patients with alpha-mannosidosis – A single center study

2022 ◽  
Vol 30 ◽  
pp. 100826
Author(s):  
Patryk Lipiński ◽  
Agnieszka Różdżyńska-Świątkowska ◽  
Katarzyna Iwanicka-Pronicka ◽  
Barbara Perkowska ◽  
Paulina Pokora ◽  
...  
Keyword(s):  
Single Center ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Single Center Study ◽  
Center Study
Load More ...
Sign in / Sign up

Export Citation Format

Share Document