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Journal of Inherited Metabolic Disease

Công bố khoa học tiêu biểu của tạp chí. * Dữ liệu chỉ mang tính chất tham khảo

Sắp xếp

Georg F. Hoffmann and Nenad Blau (eds): Congenital Neurotransmitter Disorders: A Clinical Approach

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Journal of Inherited Metabolic Disease· Tập 38 ·Trang 587-587·2015

Nikolas Boy, Verena Peters

Does the PKU diet contribute to impaired renal function?

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Journal of Inherited Metabolic Disease· Tập 36 ·Trang 903-904·2013

Denise M. Ney

Simple method for detection of mutations causing hereditary fructose intolerance

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Journal of Inherited Metabolic Disease· Tập 25 ·Trang 571-575·2002

C. Kullberg-Lindh, C. Hannoun, M. Lindh

Muscle cell cultures in Menkes' disease: Copper accumulation in myotubes

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Journal of Inherited Metabolic Disease· ·1990

G. J. van den Berg, J. J. Kroon, F. A. Wijburg, K. M. C. Sinjorgo, N. H. Herzberg, P. A. Bolhuis

Disorders of mitochondrial β-oxidation: Prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death

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Journal of Inherited Metabolic Disease· Tập 12 ·Trang 215-230·1989

R. J. Pollitt

Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials

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Journal of Inherited Metabolic Disease· Tập 20 ·Trang 486-498·1997

A. P. Prince, M. P. McMurry, N. R. M. Buist

Effect of cysteine dosage on erythrocyte glutathione synthesis rate in a patient with cystathionine beta synthase deficiency

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Journal of Inherited Metabolic Disease· Tập 31 ·Trang 469-475·2008

S. N. van der Crabben, F. A. Wijburg, M. T. Ackermans, H. P. Sauerwein

Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias

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Journal of Inherited Metabolic Disease· Tập 31 ·Trang 67-72·2008

U. Langenbeck

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

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Journal of Inherited Metabolic Disease· Tập 38 ·Trang 873-879·2015

Jacob Hagen, Heleen te Brinke, Ronald J. A. Wanders, Alida C. Knegt, Esmee Oussoren, A. Jeannette M. Hoogeboom, George J. G. Ruijter, Daniel Becker, Karl Otfried Schwab, Ingo Franke, Marinus Duran, Hans R. Waterham, Jörn Oliver Sass, Sander M. Houten

Concordance rates of Wilson’s disease phenotype among siblings

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Journal of Inherited Metabolic Disease· Tập 37 ·Trang 131-135·2013

Grzegorz Chabik, Tomasz Litwin, Anna Członkowska

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