Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings-Reference-Cited by-同舟云学术

Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings

Author:

Giuffrè B.¹²,Parini R.¹,Rizzuti T.³,Morandi L.⁴,van Diggelen O. P.⁵,Bruno C.⁶,Giuffrè M.⁷

Affiliation:

1. ; Dipartimento di Neonatologia Anatomia e Istologia Patologica; Istituti Clinici di Perfezionamento; Milan

2. Via Libertà 100 Palermo 90143 Italy

3. ; Anatomia e Istologia Patologica; Istituti Clinici di Perfezionamento; Milan

4. ; Divisione Malattie Neuromuscolari; Istituto Neurologico C. Besta; Milan Italy

5. ; Department of Clinical Genetics; Erasmus Medical Centre, Rotterdam; The Netherlands

6. ; U.O. Malattie Neuromuscolari; Istituto ‘G. Gaslini’, Università di Genova; Genoa

7. ; Dipartimento Materno Infantile; Università di Palermo; Palermo Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

Reference31 articles.

4. Beta-glucosidase activity in ?broblasts from homozygotes and heterozygotes for Gaucher's disease;Beutler;Am J Hum Genet,1971

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