Results 81 to 90 of about 4,846 (139)

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis. [PDF]

Int J Neonatal Screen
Huang S, Yao Q, Kong F, Wu M, Qiu X, Zhao P, Zeng Y, Luo J, Xu L, Zhou J.   +9 more
europepmc   +1 more source

Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect. [PDF]

Front Cardiovasc Med
Xu D, Zhang C, Hao L, Bi S, Xue A, Yuan L, Wang W.   +6 more
europepmc   +1 more source

Recurrent venous thrombosis in an adolescent male with CBS mutation and persistent antiphospholipid antibody positivity: a case report. [PDF]

Thromb J
Wang Y, Li R, Li C.
europepmc   +1 more source

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar. [PDF]

Hum Genomics
AlMarzooqi SK, Bux RI, Joy JA, Islam N, Ben-Omran T, Al-Hashimi AA, Alkowari M, Al-Shafai M.   +7 more
europepmc   +1 more source

Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review). [PDF]

Mol Med Rep
Althubity AA.
europepmc   +1 more source

A novel 110-bp insertion in a patient with homocysteinuria

Turkish Journal of Hematology, 2011
Didem Torun, Talia İleri, Kaan Gündüz, Nejat Akar   +3 more
doaj   +1 more source

Novel Homozygous MTHFR Variant Causing Homocystinuria: Subtle Phenotypic Clues in Carriers. [PDF]

AACE Endocrinol Diabetes
Pande AKR, Jha A, Thakur AK, Talat Z.
europepmc   +1 more source

HOMOCYSTINURIA. [PDF]

British medical journal, 1996
openaire   +3 more sources

Dementia, diarrhea, desquamating shellac-like dermatitis revealing late-onset cobalamin C deficiency

JAAD Case Reports, 2018
Robert Christopher Gilson, BS, Luke Wallis, BS, Jenny Yeh, MD, Robert T. Gilson, MD   +3 more
doaj   +1 more source

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients. [PDF]

Sci Rep
Fathi M, Khalilian S, Miryounesi M, Ghafouri-Fard S.   +3 more
europepmc   +1 more source