Results 151 to 160 of about 19,497 (183)

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. [PDF]

J Inherit Metab Dis
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.   +4 more
europepmc   +1 more source

Epidemiology of inherited metabolic disorders in newborn screening: insights from three years of experience in Southern Iran. [PDF]

Orphanet J Rare Dis
Salarian L, Ilkhanipoor H, Amirhakimi A, Afshar Z, Nahid S, Moradi Ardekani F, Rahimi N, Yazdani N, Nikravesh A, Beyzaei Z, Moravej H.   +10 more
europepmc   +1 more source

Branching NOTCH1 to DNA damage in T-cell acute lymphoblastic leukemia. [PDF]

Haematologica
Kulkarni T, Herranz D.
europepmc   +1 more source

Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub-Saharan Africa. [PDF]

JIMD Rep
Dercksen M, Perumal M, Davoren E, Reed DR, Murry-Maritz C, van der Sluis R, Mason S.   +6 more
europepmc   +1 more source

Urea cycle defects in adulthood: clinical presentation, diagnosis and treatment in genetically encoded hepatic metabolic disorders with a potential for encephalopathy. [PDF]

Metab Brain Dis
Das AM.
europepmc   +1 more source

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Evaluation of the risk factors for noncommunicable diseases in patients with inborn errors of amino acid metabolism receiving nutrition therapy

Journal of Pediatric Endocrinology & Metabolism (JPEM), 2023
Objectives There is growing concern about the low-protein and high-energy diet therapies used in the treatment of inherited amino acid metabolism disorders.
M. Balcı, Meryem Karaca, Alihan Yesil, Arzu Selamioğlu, Huseyin Kutay Korbeyli, Aslı Durmuş, Belkis Ak, Tuğba Kozanoğlu, Ilknur Hacioglu, G. Gokcay   +9 more
semanticscholar   +1 more source

Molecular and biochemical investigations of inborn errors of metabolism-altered redox homeostasis in branched-chain amino acid disorders, organic acidurias, and homocystinuria

Free radical research, 2021
India, resembling other developing nations, is confronting a hastening demographic switch to non-communicable diseases. Inborn errors of metabolism (IEM) constitute a varied heterogeneous group of disorders with variable clinical appearance, primarily in
S. Ray, S. Mukherjee
semanticscholar   +1 more source

Inborn errors of bile acid metabolism in Japan

Pediatrics International, 2023
Bile acids are a category of steroids biosynthesized from cholesterol in the liver. Inborn errors of their metabolism are inherited in an autosomal recessive manner, resulting in enzyme deficiencies affecting the bile acid biosynthetic pathway.
T. Mizuochi, H. Takei, H. Nittono, A. Kimura   +3 more
semanticscholar   +1 more source

Observations on the composition of milk-substitute products for treatment of inborn errors of amino acid metabolism. Comparisons with human milk. A proposal to rationalize nutrient content of treatment products.

American Journal of Clinical Nutrition, 1979
We tabulated and compared the stated compositions of four milk-substitute products, now in wide use for the treatment of various inborn errors of amino acid metabolism, and the known composition of human milk. Variations between the treatment products is
R. Nayman, M. Thomson, C. Scriver, C. Clow   +3 more
semanticscholar   +1 more source

The pathogenesis of mental retardation in phenylketonuria and other inborn errors of amino acid metabolism.

Pediatrics, 1967
It is clear that, although further screening programs of neurologically defective subjects are bound to uncover more unusual defects in intermediary metabolism, we are still at a loss to explain the pathogenesis for the cerebral abnormality in the most ...
J. Menkes
semanticscholar   +1 more source