Results 41 to 50 of about 2,687 (100)

The Usefulness of Basic Laboratory Analyses in Diagnostics of Inherited Metabolic Diseases in Children. [PDF]

Diagnostics (Basel)
Lipiński P, Doroba A.
europepmc   +1 more source

A Machine Learning Approach to Differentiate Congenital and Transient Neonatal Hyperammonemia: A 10-Year Case Series. [PDF]

Cureus
Frankevich N, Tokareva A, Makieva M, Mikhailova O, Akhapkina E, Frankevich V.   +5 more
europepmc   +1 more source

A Colorimetric Multimetabolite Assay for Quantitative Measurement of Keto Acids in Urine for At-Home Monitoring of Metabolic Disorders. [PDF]

J Anal Methods Chem
Bhattacharyya D, Kropielnicki A, Lee BL, Khaniani Y, LeVatte MA, Wishart DS.   +5 more
europepmc   +1 more source

Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review. [PDF]

Metabolites
Majewska E, Zdort Z, Ochocka A, Paprocka J.   +3 more
europepmc   +1 more source

A Four-Year Prospective Pilot Study of Newborn Screening for Late-Onset Proximal Urea-Cycle Disorders in Hyogo Prefecture in Japan. [PDF]

Int J Neonatal Screen
Lee T, Matsui M, Yokoyama Y, Bo R, Awano H, Kataoka D, Ueda M, Minato T, Kobayashi H, Hasegawa Y, Murayama K, Takeshima Y.   +11 more
europepmc   +1 more source

Successful Heat Stroke-Induced Pediatric Acute Liver Failure Treatment With N-Acetylcysteine Case Report. [PDF]

Crit Care Explor
Anandakrishnan A, O'Halloran A, Diamond T.   +2 more
europepmc   +1 more source

A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback. [PDF]

J Inherit Metab Dis
Saudubray JM, Schiff M.
europepmc   +1 more source

CRISPR-Cas9-based gene editing as a proof-of-concept approach in an inborn error of immunity caused by a DCLRE1C variant. [PDF]

Immunol Res
Duran T, Karaselek MA, Dagdelen B, Kuccukturk S, Guner SN, Keles S, Reisli I.   +6 more
europepmc   +1 more source

The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism. [PDF]

Case Rep Med
Cullufi P, Hoxha G, Gjeta I, Dervishi E, Velmishi V, Jazexhiu-Postoli E, Kola E, Tomori S, Sala D, Tabaku M.   +9 more
europepmc   +1 more source

Clinical and molecular characteristics of fructose 1, 6 bisphosphatase deficiency in 6 Egyptian patients and two common variants. [PDF]

Orphanet J Rare Dis
Elsayed SM, Mahmoud RG, Fereig YA.
europepmc   +1 more source