Results 101 to 110 of about 6,563 (194)

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases. [PDF]

Arch Clin Cases
Kodali AT, Schrunder ER, Kennedy LS, Chamberlin MD, Pineda CUA.   +4 more
europepmc   +1 more source

A Prosthetic Reaction for Homocystinuria

Homocystinuria is a rare genetic disorder characterized by elevated levels of homocysteine, an intermediate product of methionine metabolism. Accumulation of homocysteine leads to toxic effects in the eyes, bones, brain, and heart.
Bhimani, Mira
core  

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review. [PDF]

Medicine (Baltimore)
Cui X, Zhong Y, Yin C.
europepmc   +1 more source

Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report. [PDF]

Front Pediatr
Zhang G, Zhang L, Liu H.
europepmc   +1 more source

The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child. [PDF]

BMC Med Genomics
Zhang Z, Xu S, Wu T, Xu W, Wu B, Yang C.
europepmc   +1 more source

Ocular Clues in Musculoskeletal Disorders: A Narrative Review for Orthopaedic Specialists. [PDF]

J Am Acad Orthop Surg Glob Res Rev
Alhomaidhi S, Alrabai HM, Alsabbagh L, Addar A.   +3 more
europepmc   +1 more source

Case Report: Persistent isolated hyperhomocysteinemia in an adolescent with celiac disease and homozygous <i>MTHFR</i> c.665C>T polymorphism: a multifactorial disturbance of one-carbon metabolism. [PDF]

Front Genet
Al Masseri Z, Marshall CR, Martin N, Cordeiro D, Guilder L, Inbar-Feigenberg M.   +5 more
europepmc   +1 more source

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

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

The Spanish Uniform Newborn Screening Panel (SUSP): A National Consensus Framework for Harmonized Newborn Screening. [PDF]

Int J Neonatal Screen
García-Villoria J, López-Galera RM, Delgado-Pecellín C, Rausell Félix D, Colón C, Rocha H, Pérez B, Ribes A, Couce ML, González-Lamuño D, Neonatal Screening Working Group of AECOM.   +10 more
europepmc   +1 more source