Results 151 to 160 of about 10,319 (231)

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

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

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

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

132. Psychiatric Presentation of Homocystinuria: A Case Report

M. Biswas, Julius Margolis
openalex   +1 more source

HOMOCYSTINURIA. [PDF]

British medical journal, 1996
openaire   +3 more sources

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

Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies. [PDF]

J Clin Med
Shakerdi AL, Nerney D, Molloy EJ, Knerr I.   +3 more
europepmc   +1 more source

Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions

, 2016
Tomáš Majtán, Ángel L. Pey, June Ereño‐Orbea, Luis Alfonso Martínez‐Cruz, Jan P. Kraus   +4 more
openalex   +2 more sources

Homocystinuria: Studies in Tissue Culture [PDF]

, 1973
B. William Uhlendorf, E Brinson Conerly, S. Harvey Mudd   +2 more
openalex   +1 more source