Results 251 to 260 of about 620,435 (285)

Nutritional Management of Patients with Inborn Errors of Metabolism. [PDF]

Nutrients
Couce ML, Vitoria I.
europepmc   +1 more source

Contemporary Perspectives on Chronic Renal Disorders

Chronic Diseases and Translational Medicine, EarlyView.
ABSTRACT The prevalence of renal diseases and its associated burden on healthcare have tremendously risen in the past few years. From simple markers assessing kidney function, current renal research delves into understanding the diseases at the cellular and molecular levels and not just at treating, but at improving quality of life, arresting ...
Deenadhayalan Ashok, Poornima Ajay Manjrekar, Bhushan C. Shetty, Sujina S. S, Rukmini Mysore Srikantiah, Sowndarya Kollampare   +5 more
wiley   +1 more source

Genetic Landscape and Mitochondrial Metabolic Dysregulation in Patients Suffering From Severe Long COVID. [PDF]

J Med Virol
Hansen KS, Jørgensen SE, Cömert C, Schiøttz-Christensen B, Bross P, Agergaard J, Leth S, Østergaard L, Palmfeldt J, Olsen RKJ, Mogensen TH.   +10 more
europepmc   +1 more source

Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening. [PDF]

Front Public Health
Lai G, Gu Q, Lai Z, Chen H, Tu X, Chen J, Huang J.   +6 more
europepmc   +1 more source

Case report: novel NFKB2 variant associated with pediatric eosinophilic granulomatosis with polyangiitis (EGPA) in the COVID-19 pandemic. [PDF]

Pediatr Rheumatol Online J
Lin L, Peng X, Chen L, Dong L, Zhong L.
europepmc   +1 more source

Three Unrelated Patients of Roma Ethnicity from a Single Center Carrying the Same Deletion in MYD88 Gene: A Founder Effect? [PDF]

Life (Basel)
Romano R, Cillo F, Grilli L, Ciaccio A, Bufalo L, Toriello E, De Rosa A, Rosano C, Cirillo E, Blasio G, Comegna M, Di Domenico C, Castaldo G, Pignata C, Giardino G.   +14 more
europepmc   +1 more source

International Survey on Phenylketonuria Newborn Screening. [PDF]

Int J Neonatal Screen
Trampuž D, Schielen PCJI, Zetterström RH, Scarpa M, Feillet F, Kožich V, Tangeraas T, Drole Torkar A, Mlinarič M, Perko D, Remec ŽI, Lampret BR, Battelino T, Isns Study Group On Pku, van Spronsen FJ, Bonham JR, Grošelj U.   +16 more
europepmc   +1 more source

Definition of clinical immunology around the globe. [PDF]

Front Immunol
Crispín JC, Cantaert T, Pinzon-Charry A, Mavilio D, Seri A, Miossec P.   +5 more
europepmc   +1 more source

Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series. [PDF]

Diseases
Glangher A, Budișteanu M, Bârcă D, Șurlică D, Lincă FI, Ioana D, Bohîlțea LC, Focșa IO, Iliescu C.   +8 more
europepmc   +1 more source

Genética Médica y personalidades mundiales: personajes con enfermedades de causa genética o errores en la morfogénesis

Revista de Ciencias Médicas de Pinar del Río
Estela Morales Peralta, Miguel Alfonso Alvarez Fornaris   +1 more
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