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Relationship between enzyme properties and disease progression in Canavan disease

By Zano Stephen in (2013)

Springer Publishing Company

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Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients

By Sterl Elisabeth in (2013)

Springer Publishing Company

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Plasma succinylacetone is persistently raised after liver transplantation in tyrosinaemia type 1

By Bartlett David,Preece Mary,Holme Elisabeth,Lloyd Carla,Newsome Phil,McKiernan Patrick in (2013)

Springer Publishing Company

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Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment

By Coss K. in (2013)

Springer Publishing Company

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Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

By Gubbels Cynthia in (2013)

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Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

By Rasmussen Jan,Nielsen Olav,Lund Allan,Køber Lars,Djurhuus Høgni in (2013)

Springer Publishing Company

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Pontocerebellar hypoplasia type 6 caused by mutations in RARS2 : definition of the clinical spectrum and molecular findings in five patients

By Cassandrini Denise in (2013)

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Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

By Haack Tobias in (2013)

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Human neuronal coenzyme Q 10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment

By Duberley Kate in (2013)

Springer Publishing Company

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Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children

By Nagasaka Hironori in (2013)

Springer Publishing Company

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