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43 in total

Review 1. Sialidosis: a review of human neuraminidase deficiency.

Authors: J A Lowden; J S O'Brien
Journal: Am J Hum Genet Date: 1979-01 Impact factor: 11.025

2. Eye changes in ichthyosis.

Authors: R J Sever; P Frost; G Weinstein
Journal: JAMA Date: 1968-12-02 Impact factor: 56.272

3. Angiokeratoma corporis diffusum. Some clinical aspects.

Authors: A W Johnston; S D Weller; B J Warland
Journal: Arch Dis Child Date: 1968-02 Impact factor: 3.791

4. Adult type neuronal storage disease with neuraminidase deficiency.

Authors: T Miyatake; T Atsumi; T Obayashi; Y Mizuno; S Ando; T Ariga; K Matsui-Nakamura; T Yamada
Journal: Ann Neurol Date: 1979-09 Impact factor: 10.422

5. Deficient biotinidase activity in late-onset multiple carboxylase deficiency.

Authors: B Wolf; R E Grier; W D Parker; S I Goodman; R J Allen
Journal: N Engl J Med Date: 1983-01-20 Impact factor: 91.245

6. [Richner-Hanhart's syndrome or oculo-cutaneous tyrosinosis (about one case) (author's transl)].

Authors: M Larrègue; P de Giacomoni; J M Bressieux; M Odièvre
Journal: Ann Dermatol Venereol Date: 1979-01 Impact factor: 0.777

7. Natural history of Hartnup disease.

Authors: B Wilcken; J S Yu; D A Brown
Journal: Arch Dis Child Date: 1977-01 Impact factor: 3.791

8. Prolidase deficiency with iminodipeptiduria: biochemical investigations and first results of attempted therapy.

Authors: C Charpentier; K Dagbovie; A Lemonnier; M Larregue; R A Johnstone
Journal: J Inherit Metab Dis Date: 1981 Impact factor: 4.982

9. Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis.

Authors: R Basner; K von Figura; J Glössl; U Klein; H Kresse; W Mlekusch
Journal: Pediatr Res Date: 1979-12 Impact factor: 3.756

10. Tyrosine-induced eye and skin lesions. A treatable genetic disease.

Authors: L A Goldsmith; J Reed
Journal: JAMA Date: 1976-07-26 Impact factor: 56.272