Results 111 to 120 of about 452,408 (160)

Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China. [PDF]

Orphanet J Rare Dis
Wang Y, Ma Q, Li W, Huang Y, Song W, Xu H, Zhu P, Hu H.   +7 more
europepmc   +1 more source

Clinical and genetic characteristics of late-onset cobalamin C deficiency: A multicenter study in northern China. [PDF]

Intractable Rare Dis Res
Zhang H, Wei Y, Sun Y, Zhang Y, Wang Z, Zou H, Da Y, Zhao Z, Zhang Z, Wu G, Zhao W, Tian C, Yan C, Wang C, Zhao Y.   +14 more
europepmc   +1 more source

Homocystinuria symptomatology collected through an international patient-report data program as a source for natural history data. [PDF]

Mol Genet Metab Rep
Parke B, Bartke D, Beek G, Talebizadeh Z, Chapman KA, Baker J, Thomas JA.   +6 more
europepmc   +1 more source

From Proteostasis Disruption to Stone Formation: Ubiquitin-Dependent Regulatory Networks in Calcium Oxalate Nephrolithiasis. [PDF]

Biomedicines
Wu G, Liu H, Zhu W, Liu Y, Qin H, Tao L.
europepmc   +1 more source

Animal models of methylmalonic acidemia: insights and challenges. [PDF]

Orphanet J Rare Dis
Shan S, Liu M, Ma Y, Sun M, Wang Y, Zou H.   +5 more
europepmc   +1 more source

Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension. [PDF]

Orphanet J Rare Dis
Grynblat J, Coulet F, Montani D.
europepmc   +1 more source

Diagnosis and treatment of vitamin B12 deficiency in children. [PDF]

Front Nutr
Kanvinde P, Khurana R, Mudaliar S.
europepmc   +1 more source

Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry. [PDF]

Sci Rep
Han D, Tao Y, Li J, Wang L, Song W, Li X.   +5 more
europepmc   +1 more source

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review. [PDF]

Genes (Basel)
Michieletto P, Baldo F, Madonia M, Zupin L, Pensiero S, Bonati MT.   +5 more
europepmc   +1 more source

Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result. [PDF]

Int J Neonatal Screen
González de Aledo-Castillo JM, Casado-Río M, Pajares S, Meavilla Olivas S, Gort L, Martí Sánchez L, Paredes-Fuentes AJ, Pias-Peleteiro L, Gomez-Chiari M, Quintana Vidaurri M, López-Galera RM, Argudo-Ramírez A, Sainz de Medrano J, Artuch Iriberri R, García-Villoria J, Ormazábal Herrero A.   +15 more
europepmc   +1 more source