Results 171 to 180 of about 13,177 (269)

Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. [PDF]

, 1979
P. Whiteman, B. E. Clayton, R. S. Ersser, P Lilly, J. W. T. Seakins   +4 more
openalex   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes. [PDF]

Int J Neonatal Screen
Upadia J, Noh G, Crivelly K, Aziz E, Cunningham A, Andersson HC.   +5 more
europepmc   +1 more source

P006. Clinical management of migraine attributed to cerebral venous sinus thrombosis [PDF]

, 2015

core   +1 more source

Overview of homocystinuria - types, symptoms and treatment

, 2016
Georgi Shopov, Meriyan Radeva, Ersin Ismail, Alexander Boyadzhiev   +3 more
openalex   +2 more sources

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI. [PDF]

Front Radiol
Ran Y, Li W, Huo Y, Yu S, Dong Z, Tian C.   +5 more
europepmc   +1 more source

Expression of mutant human cystathionine β-synthase rescues neonatal lethality but not homocystinuria in a mouse model

, 2005
Liqun Wang, Xu‐Lin Chen, Baiqing Tang, Hua Xiang, Andres J. Klein–Szanto, Warren D. Kruger   +5 more
openalex   +2 more sources

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

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

Cardiac manifestations in adult patients with inherited metabolic disease: A single-center experience. [PDF]

Mol Genet Metab Rep
Sadiku F, Rutz T, Superti-Furga A, Monney P, Tran C.   +4 more
europepmc   +1 more source